Greenwood Genetic Center Diagnostic Laboratories

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

1765 conditions/phenotypes with 179 tests
Enter text to narrow down the list

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 syndrome4 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, 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
Chromosome 7, 14, 15
X-Chromosome Inactivation Studies

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., 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

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