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GTR Home > Laboratories > Greenwood Genetic Center Diagnostic Laboratories

Greenwood Genetic Center Diagnostic Laboratories

  • Greenwood Genetic Center Diagnostic Laboratories, GGC
  • Greenwood Genetic Center (GGC)
  • 106 Gregor Mendel Circle
  • Greenwood, South Carolina, United States 29646
  • Phone: 800-473-9411
    Fax: 864-941-8141
    Email: labgc@ggc.org
  • Website: https://www.ggc.org/diagnostic-lab

GTR Lab ID: 1019, Last updated:2024-04-17

Personnel

  • Director: Fatima Abidi, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
  • Director: Kameryn Butler, PhD, FACMG, Lab Director
  • Director: Raymond Caylor, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
  • Director: Barb DuPont, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
  • Director: Michael Friez, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
  • Director: Benjamin Hilton, PhD, FACMG, Lab Director
  • Director: Julie Jones, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
  • Director: Jennifer Lee, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
  • Director: Ray Louie, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
  • Director: Laura Pollard, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
  • Alex Finley, MS, BS, CGC, Genetic Counselor
    Phone: 864-941-8102
    Email: afinley@ggc.org
  • Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 864-388-1055
    Fax: 864-941-8141
    Email: rfletcher@ggc.org
  • Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 334-246-3647
    Email: kwalden@ggc.org
  • Aneta Kaczmarczyk, PhD, FACMG, Lab Director
  • Falecia Thomas, MS, CGC, Genetic Counselor
    Phone: 864-941-8190
    Fax: 864-941-8141
    Email: fthomas@ggc.org

Conditions and tests

  • 3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-methylglutaconic aciduria type 11 test
  • 3-Methylglutaconic aciduria type 22 tests
  • 3-Methylglutaconic aciduria type 31 test
  • 46,XY sex reversal 21 test
  • 4p partial monosomy syndrome2 tests
  • 7q11.23 microduplication syndrome2 tests
  • Aarskog syndrome1 test
  • Abortive cerebellar ataxia1 test
  • Absence seizure1 test
  • Achondrogenesis type II1 test
  • Achondroplasia2 tests
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Achromatopsia 71 test
  • Acrocephalosyndactyly type I2 tests
  • Actin accumulation myopathy2 tests
  • Action myoclonus-renal failure syndrome1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
  • Acyl-CoA oxidase deficiency1 test
  • Adenylosuccinate lyase deficiency1 test
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3 tests
  • Adrenoleukodystrophy2 tests
  • Adult-onset foveomacular vitelliform dystrophy3 tests
  • Age related macular degeneration 11 test
  • Age related macular degeneration 21 test
  • Age related macular degeneration 61 test
  • Agenesis of the corpus callosum with peripheral neuropathy1 test
  • Aicardi-Goutieres syndrome 11 test
  • Aicardi-Goutieres syndrome 21 test
  • Aicardi-Goutieres syndrome 51 test
  • Aicardi-Goutieres syndrome 61 test
  • Aicardi-Goutieres syndrome 71 test
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Alagille syndrome due to a NOTCH2 point mutation1 test
  • ALG1-congenital disorder of glycosylation1 test
  • ALG9 congenital disorder of glycosylation1 test
  • Allan-Herndon-Dudley syndrome1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome2 tests
  • Alpha-1-antitrypsin deficiency2 tests
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alpha-N-acetylgalactosaminidase deficiency type 21 test
  • Alstrom syndrome3 tests
  • Alternating hemiplegia of childhood 11 test
  • Amelocerebrohypohidrotic syndrome1 test
  • Amish lethal microcephaly1 test
  • Amyotrophic lateral sclerosis type 112 tests
  • Amyotrophic lateral sclerosis type 211 test
  • Amyotrophic lateral sclerosis type 41 test
  • Andersen Tawil syndrome2 tests
  • Aneurysm-osteoarthritis syndrome2 tests
  • Angelman syndrome7 tests
  • ANKRD1-related dilated cardiomyopathy1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
  • Anterior segment dysgenesis 11 test
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 62 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic valve disease 12 tests
  • Arginine:glycine amidinotransferase deficiency1 test
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
  • Arrhythmogenic right ventricular dysplasia 11 test
  • Arrhythmogenic right ventricular dysplasia 103 tests
  • Arrhythmogenic right ventricular dysplasia 112 tests
  • Arrhythmogenic right ventricular dysplasia 122 tests
  • Arrhythmogenic right ventricular dysplasia 23 tests
  • Arrhythmogenic right ventricular dysplasia 52 tests
  • Arrhythmogenic right ventricular dysplasia 82 tests
  • Arrhythmogenic right ventricular dysplasia 94 tests
  • Arterial tortuosity syndrome2 tests
  • Arthrogryposis, distal, type 1A2 tests
  • Arthrogryposis, distal, type 1B1 test
  • Arthrogryposis, distal, with impaired proprioception and touch1 test
  • Arthrogryposis, Perthes disease, and upward gaze palsy1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 11 test
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Arthyrgryposis, distal, type 2B1 test
  • Aspartylglucosaminuria2 tests
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
  • Atrial fibrillation, familial, 104 tests
  • Atrial fibrillation, familial, 122 tests
  • Atrial fibrillation, familial, 132 tests
  • Atrial fibrillation, familial, 142 tests
  • Atrial fibrillation, familial, 32 tests
  • Atrial fibrillation, familial, 42 tests
  • Atrial fibrillation, familial, 73 tests
  • Atrial fibrillation, familial, 92 tests
  • Atrial septal defect 32 tests
  • Atrial septal defect 53 tests
  • Atrial septal defect 71 test
  • Autism spectrum disorder1 test
  • Autoimmune interstitial lung disease-arthritis syndrome2 tests
  • Autoinflammatory syndrome, familial, Behcet-like1 test
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant auditory neuropathy 11 test
  • Autosomal dominant centronuclear myopathy2 tests
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy4 tests
  • Autosomal dominant Charcot-Marie-Tooth disease type 2M2 tests
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures2 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
  • Autosomal dominant deafness - onychodystrophy syndrome1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 11 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 31 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 41 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 51 test
  • Autosomal dominant nonsyndromic hearing loss 11 test
  • Autosomal dominant nonsyndromic hearing loss 101 test
  • Autosomal dominant nonsyndromic hearing loss 111 test
  • Autosomal dominant nonsyndromic hearing loss 121 test
  • Autosomal dominant nonsyndromic hearing loss 132 tests
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant nonsyndromic hearing loss 201 test
  • Autosomal dominant nonsyndromic hearing loss 211 test
  • Autosomal dominant nonsyndromic hearing loss 221 test
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 281 test
  • Autosomal dominant nonsyndromic hearing loss 2A1 test
  • Autosomal dominant nonsyndromic hearing loss 2B1 test
  • Autosomal dominant nonsyndromic hearing loss 361 test
  • Autosomal dominant nonsyndromic hearing loss 3A2 tests
  • Autosomal dominant nonsyndromic hearing loss 3B1 test
  • Autosomal dominant nonsyndromic hearing loss 401 test
  • Autosomal dominant nonsyndromic hearing loss 411 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 4A1 test
  • Autosomal dominant nonsyndromic hearing loss 4B1 test
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 501 test
  • Autosomal dominant nonsyndromic hearing loss 511 test
  • Autosomal dominant nonsyndromic hearing loss 62 tests
  • Autosomal dominant nonsyndromic hearing loss 641 test
  • Autosomal dominant nonsyndromic hearing loss 651 test
  • Autosomal dominant nonsyndromic hearing loss 671 test
  • Autosomal dominant nonsyndromic hearing loss 681 test
  • Autosomal dominant nonsyndromic hearing loss 691 test
  • Autosomal dominant nonsyndromic hearing loss 71 test
  • Autosomal dominant nonsyndromic hearing loss 701 test
  • Autosomal dominant nonsyndromic hearing loss 91 test
  • Autosomal dominant optic atrophy classic form2 tests
  • Autosomal dominant vitreoretinochoroidopathy2 tests
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive amelia2 tests
  • Autosomal recessive ataxia, Beauce type1 test
  • Autosomal recessive axonal neuropathy with neuromyotonia2 tests
  • Autosomal recessive bestrophinopathy1 test
  • Autosomal recessive complex spastic paraplegia type 9B1 test
  • Autosomal recessive distal spinal muscular atrophy 12 tests
  • Autosomal recessive dyskeratosis congenita 42 tests
  • Autosomal recessive inherited pseudoxanthoma elasticum1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2P1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y1 test
  • Autosomal recessive limb-girdle muscular dystrophy type R181 test
  • Autosomal recessive multiple pterygium syndrome2 tests
  • Autosomal recessive nonsyndromic hearing loss 1011 test
  • Autosomal recessive nonsyndromic hearing loss 1021 test
  • Autosomal recessive nonsyndromic hearing loss 1031 test
  • Autosomal recessive nonsyndromic hearing loss 1041 test
  • Autosomal recessive nonsyndromic hearing loss 121 test
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 163 tests
  • Autosomal recessive nonsyndromic hearing loss 18A1 test
  • Autosomal recessive nonsyndromic hearing loss 18B1 test
  • Autosomal recessive nonsyndromic hearing loss 1A3 tests
  • Autosomal recessive nonsyndromic hearing loss 1B1 test
  • Autosomal recessive nonsyndromic hearing loss 21 test
  • Autosomal recessive nonsyndromic hearing loss 211 test
  • Autosomal recessive nonsyndromic hearing loss 221 test
  • Autosomal recessive nonsyndromic hearing loss 231 test
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 251 test
  • Autosomal recessive nonsyndromic hearing loss 281 test
  • Autosomal recessive nonsyndromic hearing loss 291 test
  • Autosomal recessive nonsyndromic hearing loss 31 test
  • Autosomal recessive nonsyndromic hearing loss 301 test
  • Autosomal recessive nonsyndromic hearing loss 311 test
  • Autosomal recessive nonsyndromic hearing loss 321 test
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 371 test
  • Autosomal recessive nonsyndromic hearing loss 391 test
  • Autosomal recessive nonsyndromic hearing loss 41 test
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 481 test
  • Autosomal recessive nonsyndromic hearing loss 491 test
  • Autosomal recessive nonsyndromic hearing loss 531 test
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Autosomal recessive nonsyndromic hearing loss 61 test
  • Autosomal recessive nonsyndromic hearing loss 611 test
  • Autosomal recessive nonsyndromic hearing loss 631 test
  • Autosomal recessive nonsyndromic hearing loss 661 test
  • Autosomal recessive nonsyndromic hearing loss 671 test
  • Autosomal recessive nonsyndromic hearing loss 681 test
  • Autosomal recessive nonsyndromic hearing loss 71 test
  • Autosomal recessive nonsyndromic hearing loss 701 test
  • Autosomal recessive nonsyndromic hearing loss 741 test
  • Autosomal recessive nonsyndromic hearing loss 761 test
  • Autosomal recessive nonsyndromic hearing loss 771 test
  • Autosomal recessive nonsyndromic hearing loss 791 test
  • Autosomal recessive nonsyndromic hearing loss 81 test
  • Autosomal recessive nonsyndromic hearing loss 84A1 test
  • Autosomal recessive nonsyndromic hearing loss 84B1 test
  • Autosomal recessive nonsyndromic hearing loss 861 test
  • Autosomal recessive nonsyndromic hearing loss 881 test
  • Autosomal recessive nonsyndromic hearing loss 891 test
  • Autosomal recessive nonsyndromic hearing loss 91 test
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Autosomal recessive nonsyndromic hearing loss 931 test
  • Autosomal recessive nonsyndromic hearing loss 981 test
  • Autosomal recessive optic atrophy, OPA7 type1 test
  • Autosomal recessive polycystic kidney disease1 test
  • Autosomal recessive proximal renal tubular acidosis1 test
  • Autosomal recessive pseudohypoaldosteronism type 12 tests
  • Autosomal recessive spastic paraplegia type 761 test
  • Autosomal recessive spastic paraplegia type 781 test
  • Autosomal recessive spinocerebellar ataxia 121 test
  • Axenfeld-Rieger syndrome type 11 test
  • Ayme-Gripp syndrome1 test
  • Azorean disease2 tests
  • Bailey-Bloch congenital myopathy1 test
  • Bannayan-Riley-Ruvalcaba syndrome2 tests
  • Baraitser-winter syndrome 21 test
  • Bardet-Biedl syndrome 12 tests
  • Bardet-Biedl syndrome 101 test
  • Bardet-Biedl syndrome 111 test
  • Bardet-Biedl syndrome 121 test
  • Bardet-Biedl syndrome 132 tests
  • Bardet-Biedl syndrome 141 test
  • Bardet-Biedl syndrome 151 test
  • Bardet-Biedl syndrome 161 test
  • Bardet-Biedl syndrome 171 test
  • Bardet-Biedl syndrome 181 test
  • Bardet-Biedl syndrome 191 test
  • Bardet-Biedl syndrome 21 test
  • Bardet-biedl syndrome 211 test
  • Bardet-Biedl syndrome 31 test
  • Bardet-Biedl syndrome 41 test
  • Bardet-Biedl syndrome 51 test
  • Bardet-Biedl syndrome 61 test
  • Bardet-Biedl syndrome 71 test
  • Bardet-Biedl syndrome 82 tests
  • Bardet-Biedl syndrome 91 test
  • Bartsocas-Papas syndrome 11 test
  • Bartter disease type 31 test
  • Bartter disease type 4A1 test
  • Bartter disease type 4B1 test
  • Beare-Stevenson cutis gyrata syndrome2 tests
  • Becker muscular dystrophy2 tests
  • Beckwith-Wiedemann syndrome6 tests
  • Benign recurrent intrahepatic cholestasis type 11 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Beta-D-mannosidosis2 tests
  • Bethlem myopathy 1A1 test
  • Bethlem myopathy 21 test
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Bile acid malabsorption, primary, 11 test
  • Biotinidase deficiency2 tests
  • Birt-Hogg-Dube syndrome1 test
  • Bone fragility with contractures, arterial rupture, and deafness1 test
  • Borjeson-Forssman-Lehmann syndrome3 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
  • Brachydactyly-elbow wrist dysplasia syndrome1 test
  • Brain small vessel disease 1 with or without ocular anomalies1 test
  • Brain-lung-thyroid syndrome3 tests
  • Branchiootic syndrome 11 test
  • Branchiootorenal syndrome 11 test
  • Brittle cornea syndrome 11 test
  • Brittle cornea syndrome 21 test
  • Brody myopathy2 tests
  • Bronchiectasis with or without elevated sweat chloride 12 tests
  • Bronchiectasis with or without elevated sweat chloride 22 tests
  • Brown-Vialetto-van Laere syndrome 11 test
  • Brown-Vialetto-van Laere syndrome 21 test
  • Bruck syndrome 11 test
  • Bruck syndrome 21 test
  • Brugada syndrome1 test
  • Brugada syndrome 14 tests
  • Brugada syndrome 22 tests
  • Brugada syndrome 33 tests
  • Brugada syndrome 42 tests
  • Brugada syndrome 52 tests
  • Brugada syndrome 62 tests
  • Brugada syndrome 72 tests
  • Brugada syndrome 82 tests
  • Brugada syndrome 92 tests
  • Cantu syndrome, KCNJ8 related2 tests
  • Capillary malformation-arteriovenous malformation syndrome2 tests
  • Cardiac arrhythmia, ankyrin-B-related2 tests
  • Cardiofaciocutaneous syndrome 11 test
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiofaciocutaneous syndrome 32 tests
  • Cardiofaciocutaneous syndrome 42 tests
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2 tests
  • Cardiomyopathy, familial restrictive, 13 tests
  • Cardiomyopathy, familial restrictive, 33 tests
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyl transferase 1A deficiency1 test
  • Carnitine palmitoyltransferase II deficiency2 tests
  • Cataract 11 multiple types1 test
  • Cataract 21 multiple types1 test
  • Catecholaminergic polymorphic ventricular tachycardia 13 tests
  • Catecholaminergic polymorphic ventricular tachycardia 23 tests
  • Catecholaminergic polymorphic ventricular tachycardia 42 tests
  • Catecholaminergic polymorphic ventricular tachycardia 53 tests
  • CBL-related disorder2 tests
  • Central core myopathy1 test
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease2 tests
  • Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction1 test
  • Centronuclear myopathy1 test
  • Cerebellar atrophy with seizures and variable developmental delay1 test
  • Cerebellar atrophy, visual impairment, and psychomotor retardation;1 test
  • Cerebral cavernous malformation1 test
  • Cerebral cavernous malformation 21 test
  • Cerebral cavernous malformation 31 test
  • Cerebral cavernous malformation 41 test
  • Cerebral creatine deficiency syndrome1 test
  • Cerebrooculofacioskeletal syndrome 11 test
  • Cerebroretinal microangiopathy with calcifications and cysts 13 tests
  • Ceroid lipofuscinosis, neuronal, 6A2 tests
  • Charcot-Marie-Tooth disease axonal type 2C2 tests
  • Charcot-Marie-Tooth disease axonal type 2CC1 test
  • Charcot-Marie-Tooth disease axonal type 2F2 tests
  • Charcot-Marie-Tooth disease axonal type 2K1 test
  • Charcot-Marie-Tooth disease axonal type 2L2 tests
  • Charcot-Marie-Tooth disease axonal type 2N1 test
  • Charcot-Marie-Tooth disease axonal type 2O2 tests
  • Charcot-Marie-Tooth disease axonal type 2P1 test
  • Charcot-Marie-Tooth disease axonal type 2Q1 test
  • Charcot-Marie-Tooth disease axonal type 2S2 tests
  • Charcot-Marie-Tooth disease axonal type 2T1 test
  • Charcot-Marie-Tooth disease axonal type 2U2 tests
  • Charcot-Marie-Tooth disease axonal type 2X1 test
  • Charcot-Marie-Tooth disease axonal type 2Z1 test
  • Charcot-Marie-Tooth disease dominant intermediate B3 tests
  • Charcot-Marie-Tooth disease dominant intermediate C1 test
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease dominant intermediate E1 test
  • Charcot-Marie-Tooth disease dominant intermediate F1 test
  • Charcot-Marie-Tooth disease recessive intermediate B1 test
  • Charcot-Marie-Tooth disease recessive intermediate C2 tests
  • Charcot-Marie-Tooth disease recessive intermediate D1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 1C1 test
  • Charcot-Marie-Tooth disease type 1D1 test
  • Charcot-Marie-Tooth disease type 1E1 test
  • Charcot-Marie-Tooth disease type 1F1 test
  • Charcot-Marie-Tooth disease type 2A11 test
  • Charcot-Marie-Tooth disease type 2A22 tests
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B13 tests
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2R1 test
  • Charcot-Marie-Tooth disease type 2Y2 tests
  • Charcot-Marie-Tooth disease type 4A1 test
  • Charcot-Marie-Tooth disease type 4B11 test
  • Charcot-Marie-Tooth disease type 4B22 tests
  • Charcot-Marie-Tooth disease type 4B31 test
  • Charcot-Marie-Tooth disease type 4C1 test
  • Charcot-Marie-Tooth disease type 4D1 test
  • Charcot-Marie-Tooth disease type 4F1 test
  • Charcot-Marie-Tooth disease type 4H1 test
  • Charcot-Marie-Tooth disease type 4J2 tests
  • Charcot-Marie-Tooth disease type 4K2 tests
  • Charcot-Marie-Tooth disease X-linked dominant 11 test
  • Charcot-Marie-Tooth disease X-linked dominant 61 test
  • Charcot-Marie-Tooth disease X-linked recessive 42 tests
  • Charcot-Marie-Tooth disease X-linked recessive 51 test
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • CHARGE association4 tests
  • Charlevoix-Saguenay spastic ataxia1 test
  • Childhood onset GLUT1 deficiency syndrome 21 test
  • Cholestanol storage disease1 test
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Cholestasis, progressive familial intrahepatic, 41 test
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Chondrodysplasia Blomstrand type1 test
  • Choroidal dystrophy, central areolar 21 test
  • Choroideremia1 test
  • Christianson syndrome1 test
  • Chudley-McCullough syndrome1 test
  • Chédiak-Higashi syndrome1 test
  • Ciliary dyskinesia, primary, 372 tests
  • Ciliary dyskinesia, primary, 422 tests
  • Citrullinemia1 test
  • Citrullinemia type II1 test
  • CLAPO syndrome1 test
  • Classic homocystinuria2 tests
  • CLOVES syndrome1 test
  • Clubfoot1 test
  • COACH syndrome1 test
  • Coffin Siris/Intellectual Disability2 tests
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome 12 tests
  • Coffin-Siris syndrome 51 test
  • Coffin-Siris syndrome 61 test
  • Cohen-Gibson syndrome3 tests
  • Combined deficiency of sialidase AND beta galactosidase3 tests
  • Combined immunodeficiency due to DOCK8 deficiency1 test
  • Combined oxidative phosphorylation defect type 131 test
  • Combined oxidative phosphorylation defect type 241 test
  • Combined oxidative phosphorylation defect type 71 test
  • Complete trisomy 21 syndrome2 tests
  • Complex cortical dysplasia with other brain malformations 11 test
  • Complex cortical dysplasia with other brain malformations 21 test
  • Complex cortical dysplasia with other brain malformations 51 test
  • Compton-North congenital myopathy2 tests
  • Cone dystrophy 31 test
  • Cone dystrophy 41 test
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 161 test
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 21 test
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 211 test
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 62 tests
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy and hearing loss 11 test
  • Cone-rod dystrophy and hearing loss 21 test
  • Cone-rod synaptic disorder, congenital nonprogressive2 tests
  • Congenital bile acid synthesis defect 11 test
  • Congenital bile acid synthesis defect 21 test
  • Congenital bile acid synthesis defect 31 test
  • Congenital bile acid synthesis defect 41 test
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital central hypoventilation2 tests
  • Congenital contractural arachnodactyly3 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital diarrhea 5 with tufting enteropathy1 test
  • Congenital disorder of glycosylation1 test
  • Congenital disorder of glycosylation type 1E1 test
  • Congenital dyserythropoietic anemia type 41 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital dyserythropoietic anemia, type III1 test
  • Congenital generalized lipodystrophy type 41 test
  • Congenital hypomyelinating neuropathy1 test
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital lactase deficiency1 test
  • Congenital macrodactylia1 test
  • Congenital malabsorptive diarrhea 41 test
  • Congenital microvillous atrophy1 test
  • Congenital multicore myopathy with external ophthalmoplegia1 test
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
  • Congenital muscular dystrophy due to LMNA mutation2 tests
  • Congenital muscular dystrophy due to partial LAMA2 deficiency1 test
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
  • Congenital muscular hypertrophy-cerebral syndrome3 tests
  • Congenital myasthenic syndrome 102 tests
  • Congenital myasthenic syndrome 112 tests
  • Congenital myasthenic syndrome 141 test
  • Congenital myasthenic syndrome 161 test
  • Congenital myasthenic syndrome 202 tests
  • Congenital myasthenic syndrome 211 test
  • Congenital myasthenic syndrome 2A2 tests
  • Congenital myasthenic syndrome 2C2 tests
  • Congenital myasthenic syndrome 3A1 test
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 3C1 test
  • Congenital myasthenic syndrome 4A1 test
  • Congenital myasthenic syndrome 4B1 test
  • Congenital myasthenic syndrome 4C2 tests
  • Congenital myasthenic syndrome 51 test
  • Congenital myasthenic syndrome 92 tests
  • Congenital myopathy 232 tests
  • Congenital myopathy 4A, autosomal dominant2 tests
  • Congenital myopathy 4B, autosomal recessive2 tests
  • Congenital myopathy with fiber type disproportion2 tests
  • Congenital myopathy with internal nuclei and atypical cores1 test
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital primary aphakia1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
  • Congenital sodium diarrhea1 test
  • Congenital stationary night blindness1 test
  • Congenital stationary night blindness 1A1 test
  • Congenital stationary night blindness 1B1 test
  • Congenital stationary night blindness 1C1 test
  • Congenital stationary night blindness 1D1 test
  • Congenital stationary night blindness 1E1 test
  • Congenital stationary night blindness 1F1 test
  • Congenital stationary night blindness 1G1 test
  • Congenital stationary night blindness 1H1 test
  • Congenital stationary night blindness 2A1 test
  • Congenital stationary night blindness autosomal dominant 12 tests
  • Congenital stationary night blindness autosomal dominant 21 test
  • Congenital stationary night blindness autosomal dominant 31 test
  • Conotruncal heart malformations1 test
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
  • Cornelia de Lange syndrome 12 tests
  • Cornelia de Lange syndrome 32 tests
  • Cornelia de Lange syndrome 42 tests
  • Cornelia de Lange syndrome 52 tests
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Costello syndrome5 tests
  • Cowden syndrome1 test
  • Cowden syndrome 12 tests
  • Cowden syndrome 51 test
  • Coxopodopatellar syndrome2 tests
  • Creatine transporter deficiency1 test
  • Crigler-Najjar syndrome type 11 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome2 tests
  • Crouzon syndrome-acanthosis nigricans syndrome1 test
  • Cutaneous porphyria1 test
  • Cutis laxa with osteodystrophy1 test
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1 test
  • Cutis laxa, autosomal dominant 13 tests
  • Cutis laxa, autosomal dominant 22 tests
  • Cutis laxa, autosomal recessive, type 1A3 tests
  • Cutis laxa, autosomal recessive, type 1B1 test
  • Cutis laxa, X-linked2 tests
  • Cyclical neutropenia1 test
  • Cystic fibrosis4 tests
  • Danon disease5 tests
  • De Lange syndrome2 tests
  • Deafness dystonia syndrome1 test
  • Deafness with labyrinthine aplasia, microtia, and microdontia1 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness, X-linked 51 test
  • Deafness-infertility syndrome1 test
  • Deafness-lymphedema-leukemia syndrome1 test
  • Decreased CSF 5-methyltetrahydrofolate concentration1 test
  • Deficiency of alpha-mannosidase3 tests
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Dejerine-Sottas disease1 test
  • Delpire-McNeill syndrome1 test
  • Desbuquois dysplasia 12 tests
  • Desmin-related myofibrillar myopathy1 test
  • Developmental and epileptic encephalopathy 944 tests
  • Developmental and epileptic encephalopathy, 12 tests
  • Developmental and epileptic encephalopathy, 111 test
  • Developmental and epileptic encephalopathy, 121 test
  • Developmental and epileptic encephalopathy, 131 test
  • Developmental and epileptic encephalopathy, 142 tests
  • Developmental and epileptic encephalopathy, 152 tests
  • Developmental and epileptic encephalopathy, 162 tests
  • Developmental and epileptic encephalopathy, 172 tests
  • Developmental and epileptic encephalopathy, 182 tests
  • Developmental and epileptic encephalopathy, 192 tests
  • Developmental and epileptic encephalopathy, 21 test
  • Developmental and epileptic encephalopathy, 211 test
  • Developmental and epileptic encephalopathy, 232 tests
  • Developmental and epileptic encephalopathy, 242 tests
  • Developmental and epileptic encephalopathy, 251 test
  • Developmental and epileptic encephalopathy, 262 tests
  • Developmental and epileptic encephalopathy, 271 test
  • Developmental and epileptic encephalopathy, 282 tests
  • Developmental and epileptic encephalopathy, 291 test
  • Developmental and epileptic encephalopathy, 302 tests
  • Developmental and epileptic encephalopathy, 312 tests
  • Developmental and epileptic encephalopathy, 322 tests
  • Developmental and epileptic encephalopathy, 332 tests
  • Developmental and epileptic encephalopathy, 341 test
  • Developmental and epileptic encephalopathy, 351 test
  • Developmental and epileptic encephalopathy, 362 tests
  • Developmental and epileptic encephalopathy, 371 test
  • Developmental and epileptic encephalopathy, 381 test
  • Developmental and epileptic encephalopathy, 391 test
  • Developmental and epileptic encephalopathy, 42 tests
  • Developmental and epileptic encephalopathy, 401 test
  • Developmental and epileptic encephalopathy, 411 test
  • Developmental and epileptic encephalopathy, 421 test
  • Developmental and epileptic encephalopathy, 431 test
  • Developmental and epileptic encephalopathy, 442 tests
  • Developmental and epileptic encephalopathy, 452 tests
  • Developmental and epileptic encephalopathy, 461 test
  • Developmental and epileptic encephalopathy, 472 tests
  • Developmental and epileptic encephalopathy, 481 test
  • Developmental and epileptic encephalopathy, 491 test
  • Developmental and epileptic encephalopathy, 52 tests
  • Developmental and epileptic encephalopathy, 501 test
  • Developmental and epileptic encephalopathy, 511 test
  • Developmental and epileptic encephalopathy, 521 test
  • Developmental and epileptic encephalopathy, 532 tests
  • Developmental and epileptic encephalopathy, 541 test
  • Developmental and epileptic encephalopathy, 551 test
  • Developmental and epileptic encephalopathy, 561 test
  • Developmental and epileptic encephalopathy, 572 tests
  • Developmental and epileptic encephalopathy, 581 test
  • Developmental and epileptic encephalopathy, 592 tests
  • Developmental and epileptic encephalopathy, 62 tests
  • Developmental and epileptic encephalopathy, 601 test
  • Developmental and epileptic encephalopathy, 611 test
  • Developmental and epileptic encephalopathy, 622 tests
  • Developmental and epileptic encephalopathy, 631 test
  • Developmental and epileptic encephalopathy, 642 tests
  • Developmental and epileptic encephalopathy, 651 test
  • Developmental and epileptic encephalopathy, 662 tests
  • Developmental and epileptic encephalopathy, 672 tests
  • Developmental and epileptic encephalopathy, 681 test
  • Developmental and epileptic encephalopathy, 691 test
  • Developmental and epileptic encephalopathy, 72 tests
  • Developmental and epileptic encephalopathy, 701 test
  • Developmental and epileptic encephalopathy, 711 test
  • Developmental and epileptic encephalopathy, 741 test
  • Developmental and epileptic encephalopathy, 82 tests
  • Developmental and epileptic encephalopathy, 811 test
  • Developmental and epileptic encephalopathy, 91 test
  • Diamond-Blackfan anemia 11 test
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 31 test
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 61 test
  • Diamond-Blackfan anemia 71 test
  • Diamond-Blackfan anemia 91 test
  • Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1AA3 tests
  • Dilated cardiomyopathy 1BB3 tests
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1CC3 tests
  • Dilated cardiomyopathy 1D3 tests
  • Dilated cardiomyopathy 1DD2 tests
  • Dilated cardiomyopathy 1E4 tests
  • Dilated cardiomyopathy 1EE2 tests
  • Dilated cardiomyopathy 1FF3 tests
  • Dilated cardiomyopathy 1G3 tests
  • Dilated cardiomyopathy 1HH2 tests
  • Dilated cardiomyopathy 1I2 tests
  • Dilated cardiomyopathy 1II2 tests
  • Dilated cardiomyopathy 1JJ2 tests
  • Dilated cardiomyopathy 1KK2 tests
  • Dilated cardiomyopathy 1L2 tests
  • Dilated cardiomyopathy 1NN3 tests
  • Dilated cardiomyopathy 1O2 tests
  • Dilated cardiomyopathy 1P3 tests
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S3 tests
  • Dilated cardiomyopathy 1W2 tests
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 1Y3 tests
  • Dilated cardiomyopathy 1Z3 tests
  • Dilated cardiomyopathy 2A3 tests
  • Dilated cardiomyopathy 2B2 tests
  • Dilated cardiomyopathy 3B2 tests
  • Disorder of organic acid metabolism1 test
  • Distal arthrogryposis type 5D1 test
  • Distal myopathy with anterior tibial onset1 test
  • Distal myopathy with posterior leg and anterior hand involvement1 test
  • Distal myopathy, Tateyama type3 tests
  • Distichiasis-lymphedema syndrome2 tests
  • DK1-congenital disorder of glycosylation2 tests
  • DNA ligase IV deficiency1 test
  • DOORS syndrome3 tests
  • Doyne honeycomb retinal dystrophy1 test
  • DPM3-congenital disorder of glycosylation1 test
  • Dubin-Johnson syndrome1 test
  • Duchenne muscular dystrophy3 tests
  • Dyggve-Melchior-Clausen syndrome1 test
  • DYRK1A-related intellectual disability syndrome1 test
  • Dyskeratosis congenita, autosomal dominant 13 tests
  • Dyskeratosis congenita, autosomal dominant 23 tests
  • Dyskeratosis congenita, autosomal dominant 33 tests
  • Dyskeratosis congenita, autosomal dominant 63 tests
  • Dyskeratosis congenita, autosomal recessive 13 tests
  • Dyskeratosis congenita, autosomal recessive 23 tests
  • Dyskeratosis congenita, autosomal recessive 33 tests
  • Dyskeratosis congenita, autosomal recessive 51 test
  • Dyskeratosis congenita, autosomal recessive 61 test
  • Dyskeratosis congenita, X-linked3 tests
  • Dystonia 271 test
  • Early myoclonic encephalopathy1 test
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1 test
  • EAST syndrome2 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
  • EEM syndrome1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
  • Ehlers-Danlos syndrome, arthrochalasia type1 test
  • Ehlers-Danlos syndrome, classic type, 12 tests
  • Ehlers-Danlos syndrome, classic type, 22 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type1 test
  • Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
  • Ehlers-Danlos syndrome, musculocontractural type2 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type2 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Eichsfeld type congenital muscular dystrophy1 test
  • Elevated circulating creatine kinase concentration3 tests
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant5 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive4 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 61 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant3 tests
  • Encephalopathy due to GLUT1 deficiency1 test
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
  • Epidermal nevus1 test
  • Epilepsy, childhood absence 21 test
  • Epilepsy, early-onset, vitamin B6-dependent1 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 31 test
  • Epilepsy, familial focal, with variable foci 42 tests
  • Epilepsy, familial temporal lobe, 11 test
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, idiopathic generalized, susceptibility to, 81 test
  • Epilepsy, idiopathic generalized, susceptibility to, 91 test
  • Epilepsy, progressive myoclonic, 1B1 test
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
  • Epileptic encephalopathy, infantile or early childhood, 11 test
  • Epileptic encephalopathy, infantile or early childhood, 22 tests
  • Episodic ataxia type 11 test
  • Episodic ataxia type 21 test
  • Episodic kinesigenic dyskinesia 11 test
  • Fabry disease6 tests
  • Facioscapulohumeral muscular dystrophy 21 test
  • Familial amyloid neuropathy3 tests
  • Familial aplasia of the vermis1 test
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial infantile myasthenia2 tests
  • Familial infantile myoclonic epilepsy2 tests
  • Familial Mediterranean fever1 test
  • Familial multiple nevi flammei1 test
  • Familial pulmonary capillary hemangiomatosis2 tests
  • Familial spontaneous pneumothorax1 test
  • Familial thoracic aortic aneurysm and aortic dissection2 tests
  • Fanconi renotubular syndrome 31 test
  • Farber lipogranulomatosis2 tests
  • Fatal infantile hypertonic myofibrillar myopathy1 test
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
  • Fetal akinesia deformation sequence 12 tests
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome2 tests
  • FG syndrome 11 test
  • FGFR2-related craniosynostosis1 test
  • Floating-Harbor syndrome2 tests
  • Fragile X syndrome4 tests
  • Frank-Ter Haar syndrome1 test
  • Freeman-Sheldon syndrome1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
  • Fucosidosis2 tests
  • G6PD deficiency1 test
  • Galactosylceramide beta-galactosidase deficiency2 tests
  • Gallbladder disease 41 test
  • Gamma-aminobutyric acid transaminase deficiency2 tests
  • Gaucher disease3 tests
  • Gaucher disease due to saposin C deficiency1 test
  • Gaucher disease type I1 test
  • Geleophysic dysplasia 11 test
  • Geleophysic dysplasia 22 tests
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 102 tests
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized pustular psoriasis1 test
  • Genitopatellar syndrome3 tests
  • Giant axonal neuropathy 12 tests
  • Gilbert syndrome1 test
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 1, open angle, E1 test
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset1 test
  • Global developmental delay, progressive ataxia, and elevated glutamine1 test
  • Glomuvenous malformation1 test
  • Glutaric aciduria, type 11 test
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
  • Glycogen storage disease due to muscle beta-enolase deficiency1 test
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXd2 tests
  • Glycogen storage disease type III2 tests
  • Glycogen storage disease type X1 test
  • Glycogen storage disease, type II7 tests
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V2 tests
  • Glycogen storage disease, type VII1 test
  • GM1 gangliosidosis1 test
  • GM1 gangliosidosis type 31 test
  • GM3 synthase deficiency1 test
  • GNE myopathy2 tests
  • GNPTG-mucolipidosis1 test
  • Gordon syndrome1 test
  • Gorlin syndrome1 test
  • Greenberg dysplasia1 test
  • Greig cephalopolysyndactyly syndrome1 test
  • Haim-Munk syndrome1 test
  • Hearing loss, autosomal dominant 371 test
  • Hearing loss, autosomal dominant 711 test
  • Hearing loss, autosomal dominant 731 test
  • Hearing loss, autosomal dominant 781 test
  • Hearing loss, autosomal dominant 811 test
  • Hearing loss, autosomal dominant 821 test
  • Hearing loss, autosomal recessive 1061 test
  • Hearing loss, autosomal recessive 1111 test
  • Hearing loss, autosomal recessive 1191 test
  • Hearing loss, autosomal recessive 571 test
  • Hearing loss, autosomal recessive 941 test
  • Hearing loss, X-linked 11 test
  • Hecht syndrome1 test
  • Heimler syndrome 11 test
  • Heimler syndrome 21 test
  • Hennekam lymphangiectasia-lymphedema syndrome 12 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 21 test
  • Hereditary cryohydrocytosis with reduced stomatin2 tests
  • Hereditary disease10 tests
  • Hereditary fructosuria1 test
  • Hereditary hearing loss and deafness1 test
  • Hereditary lymphedema type I1 test
  • Hereditary motor and sensory neuropathy with optic atrophy2 tests
  • Hereditary motor and sensory neuropathy, Okinawa type1 test
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
  • Hereditary pancreatitis1 test
  • Hereditary sclerosing poikiloderma with tendon and pulmonary involvement2 tests
  • Hereditary sensory neuropathy-deafness-dementia syndrome2 tests
  • Hereditary spastic paraplegia 101 test
  • Hereditary spastic paraplegia 111 test
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 151 test
  • Hereditary spastic paraplegia 172 tests
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 21 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 281 test
  • Hereditary spastic paraplegia 301 test
  • Hereditary spastic paraplegia 312 tests
  • Hereditary spastic paraplegia 331 test
  • Hereditary spastic paraplegia 351 test
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 3A1 test
  • Hereditary spastic paraplegia 41 test
  • Hereditary spastic paraplegia 421 test
  • Hereditary spastic paraplegia 431 test
  • Hereditary spastic paraplegia 441 test
  • Hereditary spastic paraplegia 451 test
  • Hereditary spastic paraplegia 461 test
  • Hereditary spastic paraplegia 471 test
  • Hereditary spastic paraplegia 481 test
  • Hereditary spastic paraplegia 491 test
  • Hereditary spastic paraplegia 501 test
  • Hereditary spastic paraplegia 511 test
  • Hereditary spastic paraplegia 531 test
  • Hereditary spastic paraplegia 541 test
  • Hereditary spastic paraplegia 551 test
  • Hereditary spastic paraplegia 561 test
  • Hereditary spastic paraplegia 571 test
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 621 test
  • Hereditary spastic paraplegia 641 test
  • Hereditary spastic paraplegia 73 tests
  • Hereditary spastic paraplegia 721 test
  • Hereditary spastic paraplegia 731 test
  • Hereditary spastic paraplegia 751 test
  • Hereditary spastic paraplegia 771 test
  • Hereditary spastic paraplegia 81 test
  • Hereditary spastic paraplegia 9A1 test
  • Hermansky-Pudlak syndrome 13 tests
  • Hermansky-Pudlak syndrome 102 tests
  • Hermansky-Pudlak syndrome 23 tests
  • Hermansky-Pudlak syndrome 33 tests
  • Hermansky-Pudlak syndrome 43 tests
  • Hermansky-Pudlak syndrome 53 tests
  • Hermansky-Pudlak syndrome 63 tests
  • Hermansky-Pudlak syndrome 73 tests
  • Hermansky-Pudlak syndrome 81 test
  • Hermansky-Pudlak syndrome 93 tests
  • Heterotopia, periventricular, X-linked dominant1 test
  • High myopia-sensorineural deafness syndrome1 test
  • HNSHA due to aldolase A deficiency1 test
  • Houge-Janssens syndrome 31 test
  • Hunter-McAlpine craniosynostosis2 tests
  • Hurler syndrome3 tests
  • Hyaline fibromatosis syndrome2 tests
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
  • Hypercholanemia, familial1 test
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, familial, 12 tests
  • Hypercholesterolemia, familial, 41 test
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperkalemic periodic paralysis1 test
  • Hyperphosphatasia with intellectual disability syndrome 11 test
  • Hyperphosphatasia with intellectual disability syndrome 21 test
  • Hyperproinsulinemia1 test
  • Hypertrophic cardiomyopathy 14 tests
  • Hypertrophic cardiomyopathy 103 tests
  • Hypertrophic cardiomyopathy 113 tests
  • Hypertrophic cardiomyopathy 123 tests
  • Hypertrophic cardiomyopathy 133 tests
  • Hypertrophic cardiomyopathy 142 tests
  • Hypertrophic cardiomyopathy 152 tests
  • Hypertrophic cardiomyopathy 163 tests
  • Hypertrophic cardiomyopathy 171 test
  • Hypertrophic cardiomyopathy 183 tests
  • Hypertrophic cardiomyopathy 23 tests
  • Hypertrophic cardiomyopathy 203 tests
  • Hypertrophic cardiomyopathy 252 tests
  • Hypertrophic cardiomyopathy 33 tests
  • Hypertrophic cardiomyopathy 43 tests
  • Hypertrophic cardiomyopathy 63 tests
  • Hypertrophic cardiomyopathy 73 tests
  • Hypertrophic cardiomyopathy 83 tests
  • Hypertrophic cardiomyopathy 93 tests
  • Hypochondrogenesis2 tests
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 17 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 19 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 24 without anosmia1 test
  • Hypogonadotropic hypogonadism 3 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 6 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypokalemic periodic paralysis, type 11 test
  • Hypokalemic periodic paralysis, type 21 test
  • Hypomyelinating leukodystrophy 61 test
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypoplastic left heart syndrome 21 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 tests
  • Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
  • Idiopathic generalized epilepsy1 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
  • Inborn mitochondrial myopathy4 tests
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
  • Infantile cerebellar-retinal degeneration2 tests
  • Infantile epileptic dyskinetic encephalopathy1 test
  • Infantile nephronophthisis3 tests
  • Infantile neuroaxonal dystrophy1 test
  • Infantile onset spinocerebellar ataxia3 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infantile-onset X-linked spinal muscular atrophy2 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Intellectual developmental disorder with seizures and language delay2 tests
  • Intellectual disability, autosomal dominant 11 test
  • Intellectual disability, autosomal dominant 141 test
  • Intellectual disability, autosomal dominant 151 test
  • Intellectual disability, autosomal dominant 161 test
  • Intellectual disability, autosomal dominant 201 test
  • Intellectual disability, autosomal dominant 271 test
  • Intellectual disability, autosomal dominant 382 tests
  • Intellectual disability, autosomal dominant 421 test
  • Intellectual disability, autosomal dominant 51 test
  • Intellectual disability, autosomal dominant 561 test
  • Intellectual disability, autosomal dominant 61 test
  • Intellectual disability, autosomal dominant 81 test
  • Intellectual disability, autosomal recessive 422 tests
  • Intellectual disability, CASK-related, X-linked1 test
  • Intellectual disability, X-linked 11 test
  • Intellectual disability, X-linked 1021 test
  • Intellectual disability, X-linked 492 tests
  • Intellectual disability, X-linked 931 test
  • Intellectual disability, X-linked 991 test
  • Intellectual disability, X-linked 99, syndromic, female-restricted1 test
  • Intellectual disability, X-linked, with or without seizures, arx-related2 tests
  • Interstitial lung disease 22 tests
  • Interstitial lung disease due to ABCA3 deficiency4 tests
  • Iris hypoplasia with glaucoma1 test
  • Isolated lutropin deficiency1 test
  • Isolated microphthalmia 52 tests
  • Isolated neonatal sclerosing cholangitis1 test
  • Jackson-Weiss syndrome2 tests
  • Jalili syndrome1 test
  • Jervell and Lange-Nielsen syndrome 13 tests
  • Jervell and Lange-Nielsen syndrome 23 tests
  • Joubert syndrome 11 test
  • Joubert syndrome 101 test
  • Joubert syndrome 281 test
  • Joubert syndrome 61 test
  • Joubert syndrome 91 test
  • Joubert syndrome with renal defect2 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke6 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome3 tests
  • Kabuki syndrome4 tests
  • Kabuki syndrome 12 tests
  • Kabuki syndrome 21 test
  • Kartagener syndrome2 tests
  • KBG syndrome2 tests
  • Kilquist syndrome1 test
  • King Denborough syndrome1 test
  • Kleefstra syndrome2 tests
  • Kleefstra syndrome 11 test
  • Koolen-de Vries syndrome3 tests
  • Kufor-Rakeb syndrome1 test
  • L1 syndrome1 test
  • Lafora disease1 test
  • Landau-Kleffner syndrome1 test
  • Late-onset retinal degeneration2 tests
  • Leber congenital amaurosis1 test
  • Leber congenital amaurosis 12 tests
  • Leber congenital amaurosis 101 test
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 122 tests
  • Leber congenital amaurosis 132 tests
  • Leber congenital amaurosis 142 tests
  • Leber congenital amaurosis 152 tests
  • Leber congenital amaurosis 162 tests
  • Leber congenital amaurosis 171 test
  • Leber congenital amaurosis 182 tests
  • Leber congenital amaurosis 21 test
  • Leber congenital amaurosis 32 tests
  • Leber congenital amaurosis 43 tests
  • Leber congenital amaurosis 52 tests
  • Leber congenital amaurosis 62 tests
  • Leber congenital amaurosis 71 test
  • Leber congenital amaurosis 82 tests
  • Leber congenital amaurosis 91 test
  • Leber congenital amaurosis with early-onset deafness1 test
  • Leber optic atrophy4 tests
  • Left ventricular noncompaction 12 tests
  • Left ventricular noncompaction 103 tests
  • Left ventricular noncompaction 82 tests
  • Legius syndrome1 test
  • Leigh syndrome1 test
  • LEOPARD syndrome 23 tests
  • Lethal arthrogryposis-anterior horn cell disease syndrome2 tests
  • Lethal congenital contracture syndrome 12 tests
  • Lethal congenital contracture syndrome 111 test
  • Lethal congenital contracture syndrome 21 test
  • Lethal congenital contracture syndrome 31 test
  • Lethal congenital contracture syndrome 41 test
  • Lethal congenital contracture syndrome 61 test
  • Lethal congenital contracture syndrome 71 test
  • Lethal congenital contracture syndrome 81 test
  • Lethal congenital contracture syndrome 91 test
  • Lethal congenital glycogen storage disease of heart3 tests
  • Lethal multiple pterygium syndrome3 tests
  • Lethal tight skin contracture syndrome1 test
  • Leucine-induced hypoglycemia1 test
  • Liddle syndrome2 tests
  • Limb-girdle muscular dystrophy due to POMK deficiency1 test
  • Lipoic acid synthetase deficiency1 test
  • Lissencephaly type 1 due to doublecortin gene mutation1 test
  • Loeys-Dietz syndrome 11 test
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 42 tests
  • Long QT syndrome 12 tests
  • Long QT syndrome 102 tests
  • Long QT syndrome 112 tests
  • Long QT syndrome 122 tests
  • Long QT syndrome 132 tests
  • Long QT syndrome 142 tests
  • Long QT syndrome 152 tests
  • Long QT syndrome 23 tests
  • Long QT syndrome 34 tests
  • Long QT syndrome 52 tests
  • Long QT syndrome 62 tests
  • Long QT syndrome 92 tests
  • Low phospholipid associated cholelithiasis1 test
  • Lucey-Driscoll syndrome1 test
  • Lymphangiomyomatosis1 test
  • Lymphatic malformation 31 test
  • Lymphatic malformation 41 test
  • Lymphatic malformation 61 test
  • Lymphedema-posterior choanal atresia syndrome1 test
  • Lysinuric protein intolerance2 tests
  • Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
  • Macular corneal dystrophy1 test
  • Macular degeneration, age-related, 31 test
  • Macular degeneration, X-linked atrophic3 tests
  • Macular dystrophy with central cone involvement1 test
  • Majeed syndrome1 test
  • Malan overgrowth syndrome1 test
  • Malignant hyperthermia, susceptibility to, 11 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Marden-Walker syndrome1 test
  • Marfan syndrome6 tests
  • Marinesco-Sjögren syndrome2 tests
  • Marshall syndrome1 test
  • MASA syndrome1 test
  • MASS syndrome1 test
  • Mast syndrome1 test
  • Maternally-inherited spastic paraplegia4 tests
  • Maturity-onset diabetes of the young type 11 test
  • Maturity-onset diabetes of the young type 101 test
  • Maturity-onset diabetes of the young type 111 test
  • Maturity-onset diabetes of the young type 131 test
  • Maturity-onset diabetes of the young type 141 test
  • Maturity-onset diabetes of the young type 21 test
  • Maturity-onset diabetes of the young type 31 test
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 91 test
  • Meckel syndrome, type 11 test
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 61 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • Megaconial type congenital muscular dystrophy1 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
  • MEGF10-related myopathy1 test
  • Melnick-Needles syndrome3 tests
  • Menkes kinky-hair syndrome2 tests
  • Merosin deficient congenital muscular dystrophy1 test
  • MERRF syndrome5 tests
  • Metabolic myopathy due to lactate transporter defect1 test
  • Metachromatic leukodystrophy2 tests
  • Metatropic dysplasia1 test
  • Mevalonic aciduria1 test
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
  • Microcephaly, seizures, and developmental delay1 test
  • Microcephaly-capillary malformation syndrome1 test
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2 tests
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma1 test
  • Microphthalmia, isolated, with coloboma 101 test
  • Microspherophakia1 test
  • Mitochondrial complex I deficiency1 test
  • Mitochondrial complex IV deficiency, nuclear type 14 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
  • Mitochondrial disease4 tests
  • Mitochondrial DNA deletion syndrome with progressive myopathy1 test
  • Mitochondrial DNA depletion syndrome 13 tests
  • Mitochondrial DNA depletion syndrome 112 tests
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant2 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2 tests
  • Mitochondrial DNA depletion syndrome 132 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)3 tests
  • Mitochondrial DNA depletion syndrome 4b3 tests
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 8a3 tests
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type)2 tests
  • Mitochondrial DNA depletion syndrome 92 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria3 tests
  • Mitochondrial DNA depletion syndrome, myopathic form3 tests
  • Mitochondrial DNA-Associated Leigh Syndrome and NARP4 tests
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy1 test
  • Mitochondrial non-syndromic sensorineural hearing loss6 tests
  • Mitochondrial trifunctional protein deficiency2 tests
  • Miyoshi muscular dystrophy 12 tests
  • Miyoshi muscular dystrophy 31 test
  • Motor developmental delay due to 14q32.2 paternally expressed gene defect3 tests
  • Mowat-Wilson syndrome1 test
  • Mucolipidosis type II3 tests
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 73 tests
  • Mucopolysaccharidosis, MPS-II3 tests
  • Mucopolysaccharidosis, MPS-III-A2 tests
  • Mucopolysaccharidosis, MPS-III-B2 tests
  • Mucopolysaccharidosis, MPS-III-C2 tests
  • Mucopolysaccharidosis, MPS-III-D2 tests
  • Mucopolysaccharidosis, MPS-IV-A3 tests
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Muenke syndrome1 test
  • Multiple acyl-CoA dehydrogenase deficiency1 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple epiphyseal dysplasia1 test
  • Multiple sulfatase deficiency2 tests
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Muscle AMP deaminase deficiency2 tests
  • Muscle eye brain disease1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 43 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A52 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B42 tests
  • Muscular dystrophy-dystroglycanopathy type B52 tests
  • Muscular dystrophy-dystroglycanopathy type B61 test
  • Myasthenic syndrome, congenital, 1B, fast-channel2 tests
  • Myasthenic syndrome, slow-channel congenital2 tests
  • MYH7-related skeletal myopathy4 tests
  • Myoclonic dystonia 111 test
  • Myoclonic-astatic epilepsy1 test
  • Myoclonus, familial, 21 test
  • Myofibrillar myopathy 23 tests
  • Myofibrillar myopathy 31 test
  • Myofibrillar myopathy 43 tests
  • Myofibrillar myopathy 51 test
  • Myofibrillar myopathy 63 tests
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myoglobinuria, recurrent3 tests
  • Myopathy due to calsequestrin and SERCA1 protein overload1 test
  • Myopathy, centronuclear, 21 test
  • Myopathy, centronuclear, 51 test
  • Myopathy, myofibrillar, 9, with early respiratory failure1 test
  • Myopathy, myosin storage, autosomal recessive3 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Myosclerosis1 test
  • Myosin storage myopathy4 tests
  • Myotonia levior1 test
  • Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome3 tests
  • Nail-patella syndrome1 test
  • NARP syndrome2 tests
  • Naxos disease2 tests
  • NEK9-related lethal skeletal dysplasia1 test
  • Nemaline myopathy 101 test
  • Nemaline myopathy 22 tests
  • Nemaline myopathy 51 test
  • Nemaline myopathy 61 test
  • Nemaline myopathy 71 test
  • Nemaline myopathy 81 test
  • Nemaline myopathy 92 tests
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
  • Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Neonatal-onset encephalopathy with rigidity and seizures2 tests
  • Nephronophthisis 11 test
  • Nephronophthisis 191 test
  • Nephronophthisis 31 test
  • Nephronophthisis 41 test
  • Nephropathic cystinosis1 test
  • Neurodegeneration with brain iron accumulation 53 tests
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2 tests
  • Neurodevelopmental disorder with hearing loss and spasticity1 test
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language1 test
  • Neurodevelopmental disorder with involuntary movements2 tests
  • Neurodevelopmental disorder with poor language and loss of hand skills2 tests
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1 test
  • Neurofibromatosis1 test
  • Neurofibromatosis, type 12 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Neuromuscular disease, congenital, with uniform type 1 fiber1 test
  • Neuronal ceroid lipofuscinosis3 tests
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 102 tests
  • Neuronal ceroid lipofuscinosis 23 tests
  • Neuronal ceroid lipofuscinosis 33 tests
  • Neuronal ceroid lipofuscinosis 52 tests
  • Neuronal ceroid lipofuscinosis 72 tests
  • Neuronal ceroid lipofuscinosis 82 tests
  • Neuronopathy, distal hereditary motor, autosomal dominant 81 test
  • Neuronopathy, distal hereditary motor, autosomal recessive 42 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 51 test
  • Neuronopathy, distal hereditary motor, type 2A2 tests
  • Neuronopathy, distal hereditary motor, type 2B2 tests
  • Neuronopathy, distal hereditary motor, type 5A2 tests
  • Neuronopathy, distal hereditary motor, type 5B1 test
  • Neuronopathy, distal hereditary motor, type 7A2 tests
  • Neuronopathy, distal hereditary motor, type 7B1 test
  • Neutral lipid storage myopathy1 test
  • Nicolaides-Baraitser syndrome3 tests
  • Niemann-Pick disease, type A3 tests
  • Niemann-Pick disease, type B2 tests
  • Niemann-Pick disease, type C12 tests
  • Niemann-Pick disease, type C22 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
  • Non-syndromic X-linked intellectual disability2 tests
  • Noonan syndrome1 test
  • Noonan syndrome 14 tests
  • Noonan syndrome 101 test
  • Noonan syndrome 32 tests
  • Noonan syndrome 42 tests
  • Noonan syndrome 54 tests
  • Noonan syndrome 62 tests
  • Noonan syndrome 73 tests
  • Noonan syndrome 82 tests
  • Noonan syndrome 91 test
  • Noonan syndrome with multiple lentigines1 test
  • Noonan syndrome-like disorder with loose anagen hair 12 tests
  • Norman-Roberts syndrome1 test
  • Obesity due to congenital leptin deficiency1 test
  • Obesity due to leptin receptor gene deficiency1 test
  • Obesity due to prohormone convertase I deficiency1 test
  • Occult macular dystrophy2 tests
  • Ocular albinism, type I1 test
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 41 test
  • Oculocutaneous albinism type 73 tests
  • Oculopharyngeal muscular dystrophy1 test
  • Oguchi disease-11 test
  • Oguchi disease-21 test
  • Optic atrophy 32 tests
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
  • Optic nerve hypoplasia1 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Orofaciodigital syndrome I2 tests
  • Osteogenesis imperfecta2 tests
  • Oto-palato-digital syndrome, type II3 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
  • PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia1 test
  • Paramyotonia congenita of Von Eulenburg2 tests
  • Partington syndrome2 tests
  • Paternal uniparental disomy of chromosome 143 tests
  • Patterned macular dystrophy 13 tests
  • Patterned macular dystrophy 21 test
  • Pearson syndrome1 test
  • Pelizaeus-Merzbacher disease2 tests
  • Pendred syndrome1 test
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive1 test
  • Peroxisome biogenesis disorder4 tests
  • Peroxisome biogenesis disorder 10A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 10B1 test
  • Peroxisome biogenesis disorder 11A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 14B1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 1B1 test
  • Peroxisome biogenesis disorder 2A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 4B2 tests
  • Peroxisome biogenesis disorder 5A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 5B2 tests
  • Peroxisome biogenesis disorder 6A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 7B1 test
  • Peroxisome biogenesis disorder 8A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 8B1 test
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorder type 3B1 test
  • Perrault syndrome 11 test
  • Perrault syndrome 21 test
  • Perrault syndrome 31 test
  • Perrault syndrome 41 test
  • Perrault syndrome 52 tests
  • Perry syndrome1 test
  • Persistent fetal circulation syndrome2 tests
  • Pfeiffer syndrome2 tests
  • PGM1-congenital disorder of glycosylation1 test
  • PHARC syndrome2 tests
  • Phenylketonuria1 test
  • PHGDH deficiency1 test
  • Phytanic acid storage disease1 test
  • Pigmentary retinal dystrophy3 tests
  • Pigmented paravenous retinochoroidal atrophy1 test
  • Pili torti-deafness syndrome1 test
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 21 test
  • Pituitary hormone deficiency, combined, 21 test
  • PMM2-congenital disorder of glycosylation2 tests
  • Poikiloderma with neutropenia3 tests
  • POLG-related disorder1 test
  • Polycystic kidney disease 21 test
  • Polyendocrine-polyneuropathy syndrome1 test
  • Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome1 test
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 1B1 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 81 test
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • Prader-Willi syndrome4 tests
  • Primary ciliary dyskinesia 102 tests
  • Primary ciliary dyskinesia 112 tests
  • Primary ciliary dyskinesia 122 tests
  • Primary ciliary dyskinesia 132 tests
  • Primary ciliary dyskinesia 142 tests
  • Primary ciliary dyskinesia 152 tests
  • Primary ciliary dyskinesia 162 tests
  • Primary ciliary dyskinesia 172 tests
  • Primary ciliary dyskinesia 182 tests
  • Primary ciliary dyskinesia 192 tests
  • Primary ciliary dyskinesia 22 tests
  • Primary ciliary dyskinesia 202 tests
  • Primary ciliary dyskinesia 212 tests
  • Primary ciliary dyskinesia 222 tests
  • Primary ciliary dyskinesia 232 tests
  • Primary ciliary dyskinesia 242 tests
  • Primary ciliary dyskinesia 252 tests
  • Primary ciliary dyskinesia 262 tests
  • Primary ciliary dyskinesia 272 tests
  • Primary ciliary dyskinesia 282 tests
  • Primary ciliary dyskinesia 292 tests
  • Primary ciliary dyskinesia 32 tests
  • Primary ciliary dyskinesia 302 tests
  • Primary ciliary dyskinesia 322 tests
  • Primary ciliary dyskinesia 332 tests
  • Primary ciliary dyskinesia 342 tests
  • Primary ciliary dyskinesia 352 tests
  • Primary ciliary dyskinesia 62 tests
  • Primary ciliary dyskinesia 72 tests
  • Primary ciliary dyskinesia 92 tests
  • Primary dilated cardiomyopathy1 test
  • Primary familial hypertrophic cardiomyopathy4 tests
  • Primary open angle glaucoma1 test
  • Progressive external ophthalmoplegia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 22 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 33 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 42 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 52 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
  • Progressive familial heart block type IB2 tests
  • Progressive familial heart block, type 1A4 tests
  • Progressive familial intrahepatic cholestasis type 11 test
  • Progressive familial intrahepatic cholestasis type 21 test
  • Progressive familial intrahepatic cholestasis type 31 test
  • Progressive myoclonic epilepsy type 31 test
  • Progressive myoclonic epilepsy type 51 test
  • Progressive myoclonic epilepsy type 61 test
  • Progressive myoclonic epilepsy type 71 test
  • Progressive myositis ossificans2 tests
  • Progressive retinal dystrophy due to retinol transport defect1 test
  • Progressive sclerosing poliodystrophy2 tests
  • Prolidase deficiency1 test
  • Proteasome-associated autoinflammatory syndrome 12 tests
  • Proteus syndrome1 test
  • Proteus-like syndrome1 test
  • Pseudohypoparathyroidism1 test
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudohypoparathyroidism type I A1 test
  • PTEN hamartoma tumor syndrome2 tests
  • Pulmonary disease, chronic obstructive, susceptibility to2 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 13 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 21 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 33 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 43 tests
  • Pulmonary hypertension, primary, 22 tests
  • Pulmonary hypertension, primary, 32 tests
  • Pulmonary hypertension, primary, 42 tests
  • Pulmonary hypertension, primary, autosomal recessive2 tests
  • Pulmonary venoocclusive disease 12 tests
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome3 tests
  • Pyknodysostosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyridoxal phosphate-responsive seizures2 tests
  • Pyridoxine-dependent epilepsy2 tests
  • Pyruvate kinase deficiency of red cells1 test
  • Rahman syndrome2 tests
  • Rajab interstitial lung disease with brain calcifications 13 tests
  • Renal carnitine transport defect2 tests
  • Renal cysts and diabetes syndrome1 test
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renpenning syndrome1 test
  • Retinal cone dystrophy 3A1 test
  • Retinal cone dystrophy 41 test
  • Retinal dystrophy with or without macular staphyloma1 test
  • Retinal macular dystrophy type 21 test
  • Retinitis pigmentosa1 test
  • Retinitis pigmentosa 11 test
  • Retinitis pigmentosa 101 test
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 122 tests
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 142 tests
  • Retinitis pigmentosa 171 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 262 tests
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 32 tests
  • Retinitis pigmentosa 302 tests
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 391 test
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 482 tests
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 501 test
  • Retinitis pigmentosa 511 test
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 641 test
  • Retinitis pigmentosa 671 test
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 72 tests
  • Retinitis pigmentosa 7, digenic1 test
  • Retinitis pigmentosa 701 test
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 741 test
  • Retinitis pigmentosa 751 test
  • Retinitis pigmentosa 761 test
  • Retinitis pigmentosa 791 test
  • Retinitis pigmentosa 841 test
  • Retinitis pigmentosa 91 test
  • Retinitis pigmentosa with or without situs inversus1 test
  • Retinitis Pigmentosa, Dominant1 test
  • Retinitis Pigmentosa, Recessive1 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness3 tests
  • Retinitis punctata albescens1 test
  • Rett syndrome5 tests
  • Rett syndrome, congenital variant1 test
  • Rienhoff syndrome1 test
  • Rippling muscle disease3 tests
  • Rippling muscle disease 23 tests
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1 test
  • Rubinstein-Taybi syndrome2 tests
  • Russell-Silver syndrome2 tests
  • Saethre-Chotzen syndrome2 tests
  • Saldino-Mainzer syndrome2 tests
  • Salla disease1 test
  • Sandhoff disease2 tests
  • Sarcotubular myopathy1 test
  • Schuurs-Hoeijmakers syndrome1 test
  • Schwannomatosis 11 test
  • SCN2A-related generalized epilepsy with febrile seizures plus1 test
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial infantile, 51 test
  • Seizures, benign familial neonatal, 11 test
  • Seizures, benign familial neonatal, 21 test
  • Sengers syndrome2 tests
  • Senior-Loken syndrome 11 test
  • Senior-loken syndrome 31 test
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 51 test
  • Senior-Loken syndrome 81 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis3 tests
  • Septo-optic dysplasia sequence1 test
  • Severe early-childhood-onset retinal dystrophy1 test
  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency3 tests
  • Severe neurodegenerative syndrome with lipodystrophy1 test
  • Severe X-linked mitochondrial encephalomyopathy2 tests
  • Severe X-linked myotubular myopathy1 test
  • Sheldon-Hall syndrome2 tests
  • Short QT syndrome type 13 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
  • Short-rib thoracic dysplasia 14 with polydactyly1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly1 test
  • Shprintzen-Goldberg syndrome3 tests
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis type 11 test
  • Sialidosis type 22 tests
  • Sick sinus syndrome 14 tests
  • Sick sinus syndrome 2, autosomal dominant2 tests
  • Silver-Russell syndrome 12 tests
  • Simpson-Golabi-Behmel syndrome type 12 tests
  • Simpson-Golabi-Behmel syndrome type 22 tests
  • Sinoatrial node dysfunction and deafness1 test
  • Sitosterolemia 11 test
  • Sitosterolemia 21 test
  • Skeletal dysplasia1 test
  • Skin/hair/eye pigmentation, variation in, 41 test
  • SLC35A2-congenital disorder of glycosylation2 tests
  • Smith-Lemli-Opitz syndrome3 tests
  • Smith-Magenis syndrome1 test
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome5 tests
  • Spastic ataxia 11 test
  • Spastic ataxia 21 test
  • Spastic ataxia 41 test
  • Spastic paraplegia 52, autosomal recessive1 test
  • Spastic paraplegia 72, autosomal dominant1 test
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
  • Spastic paraplegia, optic atropy, and neuropathy1 test
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome1 test
  • Spermatogenic failure 181 test
  • Spermatogenic failure 461 test
  • Sphingomyelin/cholesterol lipidosis2 tests
  • Spinal muscular atrophy2 tests
  • Spinocerebellar ataxia 72 tests
  • Spinocerebellar ataxia type 12 tests
  • Spinocerebellar ataxia type 22 tests
  • Spinocerebellar ataxia type 251 test
  • Spinocerebellar ataxia type 62 tests
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • Split hand-foot malformation 41 test
  • Spondyloepiphyseal dysplasia congenita1 test
  • Stargardt disease 31 test
  • STAT3-related early-onset multisystem autoimmune disease1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Sterol carrier protein 2 deficiency1 test
  • Stickler syndrome type 22 tests
  • Stickler syndrome, IIa 61 test
  • Stickler syndrome, type 41 test
  • Stickler syndrome, type 51 test
  • STING-associated vasculopathy with onset in infancy3 tests
  • Stromme syndrome2 tests
  • Sturge-Weber syndrome1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • SUDDEN INFANT DEATH SYNDROME2 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
  • Supravalvar aortic stenosis2 tests
  • Surfactant metabolism dysfunction, pulmonary, 13 tests
  • Surfactant metabolism dysfunction, pulmonary, 23 tests
  • Surfactant metabolism dysfunction, pulmonary, 43 tests
  • Surfactant metabolism dysfunction, pulmonary, 52 tests
  • Susceptibility to mononeuropathy of the median nerve, mild1 test
  • Syndromic microphthalmia type 52 tests
  • Syndromic X-linked intellectual disability 141 test
  • Syndromic X-linked intellectual disability Claes-Jensen type3 tests
  • Syndromic X-linked intellectual disability Hedera type1 test
  • Syndromic X-linked intellectual disability Nascimento type2 tests
  • Syndromic X-linked intellectual disability Snyder type1 test
  • SYNGAP1-related developmental and epileptic encephalopathy1 test
  • Tatton-Brown-Rahman overgrowth syndrome1 test
  • Tay-Sachs disease2 tests
  • Tay-Sachs disease, variant AB1 test
  • Telangiectasia, hereditary hemorrhagic, type 13 tests
  • Telangiectasia, hereditary hemorrhagic, type 23 tests
  • Telangiectasia, hereditary hemorrhagic, type 53 tests
  • Temple-Baraitser syndrome1 test
  • Tetralogy of Fallot1 test
  • Thanatophoric dysplasia type 13 tests
  • Thanatophoric dysplasia, type 21 test
  • Thrombophilia1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Tibial muscular dystrophy1 test
  • Timothy syndrome3 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Trichohepatoenteric syndrome 11 test
  • Troyer syndrome1 test
  • Tuberous sclerosis 13 tests
  • Tuberous sclerosis 23 tests
  • TWIST1-related craniosynostosis2 tests
  • Type 1 diabetes mellitus 21 test
  • Type 2 diabetes mellitus1 test
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Tyrosinase-positive oculocutaneous albinism1 test
  • Tyrosinemia type I1 test
  • Ullrich congenital muscular dystrophy 1A1 test
  • Ullrich congenital muscular dystrophy 21 test
  • Uniparental disomy of 71 test
  • Unverricht-Lundborg syndrome1 test
  • Usher syndrome type 11 test
  • Usher syndrome type 1C1 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1G1 test
  • Usher syndrome type 1J1 test
  • Usher syndrome type 2A1 test
  • Usher syndrome type 2C1 test
  • Usher syndrome type 2D1 test
  • Usher syndrome type 31 test
  • Usher syndrome type 3B1 test
  • Usher syndrome, type 41 test
  • Van den Ende-Gupta syndrome1 test
  • Ventricular septal defect 31 test
  • Very long chain acyl-CoA dehydrogenase deficiency2 tests
  • Vitelliform macular dystrophy2 tests
  • Vitelliform macular dystrophy 41 test
  • Vitelliform macular dystrophy 51 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C2 tests
  • Waardenburg syndrome, IIa 2F1 test
  • Warburg micro syndrome 21 test
  • Weaver syndrome3 tests
  • Welander distal myopathy1 test
  • West syndrome1 test
  • Wieacker-Wolff syndrome1 test
  • Wiedemann-Steiner syndrome3 tests
  • Williams syndrome2 tests
  • Wilson-Turner syndrome1 test
  • Wolff-Parkinson-White pattern3 tests
  • Wolfram syndrome 22 tests
  • Wolfram-like syndrome2 tests
  • Wolman disease3 tests
  • X inactivation, familial skewed, 11 test
  • X inactivation, familial skewed, 21 test
  • X-linked Alport syndrome1 test
  • X-linked cone-rod dystrophy 12 tests
  • X-linked cone-rod dystrophy 31 test
  • X-linked distal spinal muscular atrophy type 31 test
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
  • X-linked Emery-Dreifuss muscular dystrophy3 tests
  • X-linked intellectual disability Cabezas type2 tests
  • X-linked intellectual disability, Cantagrel type1 test
  • X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
  • X-linked lissencephaly with abnormal genitalia1 test
  • X-linked mixed hearing loss with perilymphatic gusher1 test
  • X-linked myopathy with postural muscle atrophy2 tests
  • X-linked Opitz G/BBB syndrome1 test
  • X-linked scapuloperoneal muscular dystrophy2 tests
  • Yao syndrome1 test
  • Yunis-Varon syndrome1 test
  • Zellweger spectrum disorders2 tests
  • Zimmermann-Laband syndrome 11 test
  • Zimmermann-Laband syndrome 21 test

List of services

  • Maternal cell contamination study (MCC)
  • Uniparental Disomy (UPD) Testing, comments
  • X-Chromosome Inactivation Studies

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 42D0689473, Expiration date: 2025-08-16
  • CAP, Number: 3833401, Expiration date: 2025-07-15

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS00800880, Expiration date: 2024-07-21
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 2044, Effective date: 2018-07-01 Non-expiring
  • PA - Pennsylvania Department of Health PADOH, Number: 33852, Expiration date: 2024-08-15

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.