Quantitative Genomic Medicine Laboratories, SL

Personnel

Director: Lluis Armengol, PhD, Lab Director
Phone: +34 932301270
Email: lluis.armengol@qgenomics.com
Jairo Rodriguez, PhD, Administrator
Email: jairo.rodriguez@qgenomics.com
Maria Segura, PhD, Staff
Phone: +34 932301270
Email: maria.segura@qgenomics.com
Olaya Villa, PhD, Staff
Phone: +34 932301270
Email: olaya.villa@qgenomics.com

Conditions and tests

663 conditions/phenotypes with 33 tests
Enter text to narrow down the list

11p partial monosomy syndrome5 tests
11q partial monosomy syndrome5 tests
3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
3MC syndrome 11 test
46,XX sex reversal 16 tests
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 26 tests
46,XY sex reversal 36 tests
46,XY sex reversal 51 test
46,XY sex reversal 61 test
46,XY sex reversal 91 test
4p partial monosomy syndrome5 tests
5p partial monosomy syndrome5 tests
8p23.1 microdeletion syndrome5 tests
8q22.1 microdeletion syndrome5 tests
Aarskog syndrome1 test
Achondrogenesis type II1 test
Achondrogenesis, type IB1 test
Achondroplasia1 test
Achromatopsia 31 test
Acquired hemoglobin H disease1 test
Acyl-CoA oxidase deficiency1 test
Adenosine kinase deficiency1 test
Adrenoleukodystrophy1 test
ADULT syndrome1 test
Adult-onset autosomal dominant demyelinating leukodystrophy5 tests
Alagille syndrome due to a JAG1 point mutation5 tests
Alkaptonuria1 test
Allan-Herndon-Dudley syndrome1 test
Alpha mannosidosis type II1 test
alpha Thalassemia1 test
Alpha thalassemia-intellectual disability syndrome type 15 tests
Alpha-1-antitrypsin deficiency1 test
Alpha-thalassemia/intellectual disability syndrome1 test
Alveolar rhabdomyosarcoma1 test
Alzheimer disease5 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta hypomaturation type 2A21 test
Amelogenesis imperfecta hypomaturation type 2A31 test
Amelogenesis imperfecta hypomaturation type 2A41 test
Amelogenesis imperfecta type 1E1 test
Amelogenesis imperfecta type 2A11 test
Amelogenesis imperfecta, hypocalcification type1 test
Anauxetic dysplasia 11 test
Androgen resistance syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Angelman syndrome5 tests
Aniridia 16 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome5 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Arginase deficiency1 test
Argininosuccinate lyase deficiency1 test
Aromatase deficiency1 test
Arts syndrome1 test
Aspartylglucosaminuria, finnish type1 test
Asperger syndrome, X-linked, susceptibility to, 11 test
Asphyxiating thoracic dystrophy 31 test
Ataxia-telangiectasia syndrome1 test
Atrial septal defect 21 test
Atrial septal defect 75 tests
Atrioventricular septal defect and common atrioventricular junction1 test
Atrophia bulborum hereditaria6 tests
Auditory neuropathy, autosomal recessive, 11 test
Aural atresia, congenital1 test
Auriculocondylar syndrome 11 test
Auriculocondylar syndrome 21 test
Auriculocondylar syndrome 31 test
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia1 test
Autosomal dominant non-syndromic intellectual disability1 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant Opitz G/BBB syndrome1 test
Autosomal dominant polycystic kidney disease5 tests
Autosomal recessive Alport syndrome1 test
Autosomal recessive DOPA responsive dystonia1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive non-syndromic intellectual disability1 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive polycystic kidney disease1 test
Axenfeld-Rieger syndrome type 16 tests
Axenfeld-Rieger syndrome type 31 test
Azoospermia1 test
Baller-Gerold syndrome1 test
Bamforth-Lazarus syndrome1 test
Bannayan-Riley-Ruvalcaba syndrome5 tests
Bardet-Biedl syndrome6 tests
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 21 test
Bartsocas-Papas syndrome 11 test
Bartter disease type 15 tests
Bartter disease type 25 tests
Bartter disease type 4A6 tests
Bartter disease type 4B5 tests
Basal cell carcinoma, susceptibility to, 11 test
Batten-Turner congenital myopathy1 test
Becker muscular dystrophy1 test
Beckwith-Wiedemann syndrome6 tests
Benign recurrent intrahepatic cholestasis type 11 test
beta Thalassemia1 test
Bilateral frontoparietal polymicrogyria5 tests
Bilateral microtia-deafness-cleft palate syndrome1 test
Biotinidase deficiency1 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome5 tests
Brachydactyly type B11 test
Brachydactyly type B21 test
Brachyolmia-amelogenesis imperfecta syndrome1 test
Branchiooculofacial syndrome1 test
Branchiootic syndrome 31 test
Branchiootorenal syndrome 16 tests
Breast cancer, susceptibility to1 test
Breast neoplasm1 test
Camptomelic dysplasia6 tests
Carcinoma of colon1 test
Cardiofaciocutaneous syndrome 15 tests
Cardiofaciocutaneous syndrome 25 tests
Cardiofaciocutaneous syndrome 35 tests
Cardiofaciocutaneous syndrome 45 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Carnitine palmitoyltransferase I deficiency , muscle1 test
Cat eye syndrome5 tests
Catecholaminergic polymorphic ventricular tachycardia 21 test
Catecholaminergic polymorphic ventricular tachycardia 51 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Charcot-Marie-Tooth disease type 1B5 tests
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
CHARGE association6 tests
Charlevoix-Saguenay spastic ataxia1 test
Cholestanol storage disease1 test
Chondrodysplasia Blomstrand type1 test
Chromosome 10q23 deletion syndrome5 tests
Chromosome 14q11-q22 deletion syndrome5 tests
Chromosome 15q13.3 microdeletion syndrome5 tests
Chromosome 16p12.2-p11.2 deletion syndrome5 tests
Chromosome 16q22 deletion syndrome5 tests
Chromosome 1p36 deletion syndrome5 tests
Chromosome 1q21.1 deletion syndrome5 tests
Chromosome 1q41-q42 deletion syndrome6 tests
CHROMOSOME 1qter DELETION SYNDROME5 tests
Chromosome 22q11.2 deletion syndrome, distal5 tests
Chromosome 2p16.1-p15 deletion syndrome5 tests
Chromosome 2q32-q33 deletion syndrome6 tests
Chromosome 2q37 deletion syndrome5 tests
Chromosome 3q29 microdeletion syndrome5 tests
Chromosome Xq28 duplication syndrome5 tests
Citrullinemia type I1 test
Citrullinemia type II1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Cleft lip/palate-ectodermal dysplasia syndrome1 test
Cleft palate with or without ankyloglossia, X-linked1 test
Cleidocranial dysostosis6 tests
COACH syndrome 11 test
Coffin-Lowry syndrome1 test
Colorectal cancer1 test
Colorectal cancer, hereditary nonpolyposis, type 61 test
Combined malonic and methylmalonic acidemia1 test
Combined oxidative phosphorylation defect type 41 test
Cone-rod dystrophy 31 test
Congenital absence of salivary gland1 test
Congenital adrenal hyperplasia1 test
Congenital adrenal hypoplasia, X-linked5 tests
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1 test
Congenital defect of folate absorption1 test
Congenital diaphragmatic hernia5 tests
Congenital disorder of glycosylation, type IAA1 test
Congenital hyperammonemia, type I1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Congenital muscular hypertrophy-cerebral syndrome6 tests
Congenital myotonia, autosomal recessive form1 test
Congenital prothrombin deficiency1 test
Corneal dystrophy, Fuchs endothelial, 41 test
Cornelia de Lange syndrome 16 tests
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cortisone reductase deficiency1 test
Costello syndrome5 tests
COVID-191 test
Cowden syndrome 15 tests
Cranioectodermal dysplasia 11 test
Cranioectodermal dysplasia 21 test
Cranioectodermal dysplasia 31 test
Craniofacial-deafness-hand syndrome1 test
Craniofrontonasal syndrome1 test
Craniosynostosis 21 test
Craniosynostosis 41 test
Craniosynostosis and dental anomalies1 test
Creatine transporter deficiency1 test
Crigler-Najjar syndrome type 11 test
Currarino triad5 tests
Cystathioninuria1 test
Cystic fibrosis1 test
Cystinosis, atypical nephropathic1 test
Cystinuria1 test
Dandy-Walker syndrome5 tests
Deafness dystonia syndrome5 tests
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, digenic, GJB2/GJB31 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of galactokinase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of N-acetylglucosamine-1-phosphotransferase1 test
Deficiency of steroid 17-alpha-monooxygenase2 tests
Dent disease type 21 test
Dentin dysplasia type I1 test
Dermatofibrosis lenticularis disseminata5 tests
Developmental and epileptic encephalopathy, 12 tests
Developmental and epileptic encephalopathy, 25 tests
Diaphragmatic hernia 25 tests
DiGeorge syndrome5 tests
Distal monosomy 10p5 tests
Donnai-Barrow syndrome1 test
Drash syndrome1 test
Duane-radial ray syndrome6 tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia and immunodeficiency 11 test
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis 1, isolated, autosomal dominant5 tests
Ectopia lentis et pupillae1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ellis-van Creveld syndrome1 test
Encephalocraniocutaneous lipomatosis1 test
Endometrial carcinoma1 test
Epidermolysis bullosa dystrophica inversa, autosomal recessive1 test
Epilepsy1 test
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Epiphyseal dysplasia, multiple, 21 test
Ethylmalonic encephalopathy1 test
Fabry disease1 test
Factor V deficiency1 test
Familial hypercholesterolemia1 test
Familial hyperinsulinism1 test
Familial hypocalciuric hypercalcemia5 tests
Familial hypokalemia-hypomagnesemia5 tests
Familial isolated deficiency of vitamin E1 test
Familial multiple polyposis syndrome5 tests
Familial thyroid dyshormonogenesis 11 test
Fanconi anemia1 test
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group C1 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Feingold syndrome5 tests
FG syndrome 55 tests
Fibrochondrogenesis 11 test
Fibrous dysplasia of jaw1 test
Focal dermal hypoplasia1 test
Fragile X syndrome6 tests
Fraser syndrome 11 test
FRAXE1 test
Friedreich ataxia with retained reflexes1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny1 test
Fructose and galactose intolerance1 test
Fryns syndrome5 tests
Fumarase deficiency1 test
Galactosemia1 test
Gaucher disease perinatal lethal1 test
Generalized epilepsy with febrile seizures plus, type 15 tests
Generalized juvenile polyposis/juvenile polyposis coli5 tests
Genetic predisposition15 tests
Genitopatellar syndrome1 test
Global developmental delay1 test
Glucocorticoid resistance1 test
Glucocorticoid-remediable aldosteronism1 test
Glutamate formiminotransferase deficiency1 test
Glutaric acidemia IIa1 test
Glutaric acidemia IIb1 test
Glutaric acidemia IIc1 test
Glutaryl-CoA oxidase deficiency1 test
Glycine N-methyltransferase deficiency1 test
Glycogen storage disease1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease IIIa1 test
Glycogen storage disease IV, classic hepatic1 test
Glycogen storage disease, type I1 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type V1 test
GM1-gangliosidosis, type I, with cardiac involvement1 test
Goldmann-Favre syndrome1 test
Gonadotropin-independent familial sexual precocity1 test
Gorlin syndrome5 tests
Greig cephalopolysyndactyly syndrome6 tests
Guttmacher syndrome1 test
Heimler syndrome 21 test
Hemochromatosis type 2A1 test
Hemochromatosis type 31 test
Hemophilia A with vascular abnormality1 test
Hemophilia b(m)1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary breast ovarian cancer syndrome1 test
Hereditary cancer-predisposing syndrome3 tests
Hereditary disease15 tests
Hereditary factor XI deficiency disease1 test
Hereditary liability to pressure palsies5 tests
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 71 test
Heterotaxy, visceral, 1, X-linked5 tests
Histidinemia1 test
Holocarboxylase synthetase deficiency1 test
Holoprosencephaly 15 tests
Holoprosencephaly 111 test
Holoprosencephaly 26 tests
Holoprosencephaly 36 tests
Holoprosencephaly 46 tests
Holoprosencephaly 56 tests
Holoprosencephaly 65 tests
Holoprosencephaly 75 tests
Holoprosencephaly 85 tests
Holoprosencephaly sequence5 tests
Holt-Oram syndrome5 tests
Homocystinuria1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Homocystinuria, cblD type, variant 11 test
Hyper-IgM syndrome type 11 test
Hypercholesterolemia, familial, 11 test
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1 test
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
Hyperprolinemia type 21 test
Hypogonadotropic hypogonadism 1 with or without anosmia5 tests
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
Hypomyelinating leukodystrophy 111 test
Hypoparathyroidism, deafness, renal disease syndrome5 tests
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypospadias 2, X-linked1 test
Hypothyroidism due to TSH receptor mutations1 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotrichosis 21 test
Inborn glycerol kinase deficiency5 tests
Infantile neuronal ceroid lipofuscinosis1 test
Intellectual developmental disorder, X-linked, syndromic 161 test
Intellectual disability1 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 141 test
Intellectual disability, X-linked 215 tests
Intellectual disability, X-linked 305 tests
Intellectual disability, X-linked 411 test
Intellectual disability, X-linked 631 test
Intellectual disability, X-linked 91 test
Intellectual disability, X-linked 901 test
Intellectual disability, X-linked 991 test
Intellectual disability, X-linked syndromic, Turner type1 test
Intellectual disability, X-linked, syndromic 331 test
Intellectual disability, X-linked, with panhypopituitarism6 tests
Intervertebral disc disorder1 test
Iodotyrosyl coupling defect1 test
Isolated cleft palate6 tests
Isolated microphthalmia 31 test
Isovaleric acidemia, type I1 test
Joubert syndrome 101 test
Joubert syndrome 151 test
Joubert syndrome 181 test
Joubert syndrome 21 test
Joubert syndrome 36 tests
Joubert syndrome 56 tests
Joubert syndrome 81 test
Joubert syndrome with renal defect6 tests
Junctional epidermolysis bullosa gravis of Herlitz1 test
Junctional epidermolysis bullosa, non-Herlitz type1 test
Juvenile retinoschisis6 tests
Kabuki syndrome 11 test
Kabuki syndrome 21 test
KBG syndrome1 test
Kleefstra syndrome 15 tests
Klippel-Feil syndrome 1, autosomal dominant1 test
Klippel-Feil syndrome 2, autosomal recessive1 test
Klippel-Feil syndrome 3, autosomal dominant1 test
Kniest dysplasia5 tests
Koolen-de Vries syndrome5 tests
Kostmann syndrome1 test
Krabbe disease due to saposin A deficiency1 test
Langer mesomelic dysplasia syndrome5 tests
Langer-Giedion syndrome5 tests
Late-infantile neuronal ceroid lipofuscinosis1 test
LCHAD deficiency with maternal acute fatty liver of pregnancy1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 105 tests
Leber congenital amaurosis 131 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 21 test
Leber congenital amaurosis 41 test
Leber congenital amaurosis 81 test
Leigh Syndrome (mtDNA mutation)1 test
Leri-Weill dyschondrosteosis5 tests
Li-Fraumeni syndrome 15 tests
Linear skin defects with multiple congenital anomalies 15 tests
Lissencephaly due to LIS1 mutation5 tests
Lissencephaly type 1 due to doublecortin gene mutation6 tests
Loeys-Dietz syndrome 16 tests
Loeys-Dietz syndrome 25 tests
Lowe syndrome5 tests
Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
Macrocephaly-autism syndrome5 tests
Macular corneal dystrophy1 test
Mandibulofacial dysostosis-microcephaly syndrome1 test
Maple syrup urine disease type 1B1 test
Maple syrup urine disease type 21 test
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA1 test
Marfan syndrome5 tests
MASA syndrome1 test
MASS syndrome5 tests
Meckel syndrome, type 11 test
Meckel syndrome, type 46 tests
Meckel syndrome, type 91 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
MEGF8-related Carpenter syndrome1 test
Meier-Gorlin syndrome 71 test
Metachromatic leukodystrophy1 test
Methemoglobinemia type 41 test
Methylcobalamin deficiency type cblE1 test
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria, cblB type1 test
METHYLMALONIC ACIDURIA, mut(0) TYPE1 test
Mevalonic aciduria1 test
MHC class II deficiency1 test
Microphthalmia with brain and digit anomalies1 test
Microphthalmia, syndromic 111 test
Microvascular complications of diabetes, susceptibility to, 15 tests
Mild Canavan disease1 test
Miller Dieker syndrome5 tests
Miller syndrome1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial trifunctional protein deficiency1 test
Monosomy 9q22.35 tests
Mowat-Wilson syndrome6 tests
Mucolipidosis III alpha/beta, atypical1 test
Mucopolysaccharidosis type 11 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-III-D1 test
Mucopolysaccharidosis, MPS-IV-A1 test
Mullerian aplasia and hyperandrogenism1 test
Muscle eye brain disease1 test
Muscular dystrophy-dystroglycanopathy1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
Nager syndrome1 test
Nail-patella syndrome5 tests
Nemaline myopathy 21 test
Nemaline myopathy 51 test
Neonatal severe primary hyperparathyroidism5 tests
Nephronophthisis 15 tests
Nephronophthisis 131 test
Nephrotic syndrome1 test
Neurofibromatosis, type 15 tests
Neurofibromatosis, type 25 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neutral 1 amino acid transport defect1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type C1, juvenile form1 test
Niemann-Pick disease, type C21 test
Nijmegen breakage syndrome-like disorder1 test
Non-ketotic hyperglycinemia1 test
Noonan syndrome 15 tests
Noonan syndrome 45 tests
Norman-Roberts syndrome5 tests
Nystagmus 6, congenital, X-linked1 test
Oculocutaneous albinism type 11 test
Oculocutaneous albinism type 31 test
Oculocutaneous albinism type 41 test
Oculofaciocardiodental syndrome1 test
Odonto-onycho-dermal dysplasia2 tests
Ogden syndrome1 test
Ornithine carbamoyltransferase deficiency6 tests
Orofacial cleft 101 test
Orofacial cleft 151 test
Orofaciodigital syndrome I5 tests
Osteogenesis imperfecta type 81 test
Otofaciocervical syndrome 15 tests
Ovarian cancer1 test
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome1 test
Pallister-Killian syndrome5 tests
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome1 test
Partial androgen insensitivity syndrome1 test
PCWH syndrome1 test
Pelizaeus-Merzbacher disease6 tests
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 6A (Zellweger)1 test
Peroxisome biogenesis disorder 9B1 test
Persistent Mullerian duct syndrome1 test
Pettigrew syndrome1 test
Phelan-McDermid syndrome5 tests
Phenylketonuria1 test
Piebaldism1 test
Pili torti-deafness syndrome1 test
Pituitary hormone deficiency, combined, 21 test
Polyglandular autoimmune syndrome, type 11 test
Popliteal pterygium syndrome1 test
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1 test
Potocki-Lupski syndrome5 tests
Potocki-Shaffer syndrome5 tests
Prader-Willi syndrome5 tests
Primary ciliary dyskinesia1 test
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Propionic acidemia1 test
Proteus syndrome5 tests
Proximal 16p11.2 microdeletion syndrome5 tests
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
Pyknodysostosis1 test
Pyruvate carboxylase deficiency1 test
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E3-binding protein deficiency1 test
RAB23-related Carpenter syndrome1 test
Radial aplasia-thrombocytopenia syndrome5 tests
Renal cysts and diabetes syndrome5 tests
Renpenning syndrome1 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 251 test
Retinitis pigmentosa 261 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 461 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 591 test
Retinoblastoma5 tests
Rhizomelic chondrodysplasia punctata type 31 test
Richieri Costa-Pereira syndrome1 test
Rubinstein-Taybi syndrome5 tests
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion5 tests
Saethre-Chotzen syndrome5 tests
Sandhoff disease1 test
Schizencephaly5 tests
Senior-Loken syndrome 66 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe myoclonic epilepsy in infancy5 tests
Short stature-pituitary and cerebellar defects-small sella turcica syndrome5 tests
Short-rib thoracic dysplasia 6 with or without polydactyly1 test
Short-rib thoracic dysplasia 8 with or without polydactyly1 test
SHOX-related short stature5 tests
Shprintzen-Goldberg syndrome6 tests
Sialidosis type 21 test
SIN3A-related intellectual disability syndrome due to a point mutation5 tests
Smith-Lemli-Opitz syndrome7 tests
Smith-Magenis syndrome5 tests
Sotos syndrome5 tests
Spastic paraplegia1 test
Spasticity-ataxia-gait anomalies syndrome1 test
Spinal muscular atrophy1 test
Spinal muscular atrophy with congenital bone fractures 11 test
Split hand-foot malformation 15 tests
Split hand-foot malformation 35 tests
Split hand-foot malformation 45 tests
Split hand-foot malformation 55 tests
Stickler syndrome type 15 tests
Stickler syndrome, type 41 test
Sudden infant death-dysgenesis of the testes syndrome1 test
Syndromic microphthalmia type 51 test
Syndromic X-linked intellectual disability 341 test
Syndromic X-linked intellectual disability 941 test
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Syndromic X-linked intellectual disability Najm type1 test
Syndromic X-linked intellectual disability Siderius type1 test
Synpolydactyly type 15 tests
T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
Tay-Sachs disease1 test
TCF12-related craniosynostosis1 test
Testosterone 17-beta-dehydrogenase deficiency1 test
Thrombocytopenia1 test
Thyroid dyshormonogenesis1 test
Thyroid dyshormonogenesis 61 test
Thyroid hormone resistance syndrome1 test
Tietz syndrome1 test
Tooth agenesis, selective, 31 test
Tooth agenesis, selective, 71 test
Townes-Brocks syndrome 16 tests
Treacher Collins syndrome1 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Trichorhinophalangeal dysplasia type I5 tests
Troyer syndrome1 test
Tuberous sclerosis 25 tests
TWIST1-related craniosynostosis1 test
Tyrosinase-positive oculocutaneous albinism5 tests
Tyrosinemia type I1 test
Tyrosinemia type II1 test
UDPglucose-4-epimerase deficiency1 test
Ulnar-mammary syndrome5 tests
Usher syndrome type 1B1 test
Usher syndrome type 1G1 test
Usher syndrome type 2D1 test
Usher syndrome type 31 test
Van der Woude syndrome 15 tests
Van der Woude syndrome 21 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Waardenburg syndrome type 2A5 tests
Waardenburg syndrome type 35 tests
Walker-Warburg congenital muscular dystrophy1 test
Weaver syndrome1 test
Weill-Marchesani syndrome 2, dominant5 tests
Williams syndrome5 tests
Wilms tumor 15 tests
Wilson disease1 test
Wolman disease1 test
X-linked agammaglobulinemia5 tests
X-linked Alport syndrome5 tests
X-linked chondrodysplasia punctata 11 test
X-linked cone-rod dystrophy 11 test
X-linked deafness1 test
X-linked ichthyosis with steryl-sulfatase deficiency5 tests
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability with marfanoid habitus1 test
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
X-linked intellectual disability-retinitis pigmentosa syndrome5 tests
X-linked intellectual disability-short stature-overweight syndrome1 test
X-linked lissencephaly with abnormal genitalia5 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency5 tests
X-linked Opitz G/BBB syndrome1 test
X-linked severe combined immunodeficiency1 test

List of services

Confirmation of research findings
Custom microarray analysis
Uniparental Disomy (UPD) Testing
Carrier testing: Order Code: qCarrier
Identity Testing: Order Code: qCell Identity
Custom Deletion/Duplication Testing: Order Code: qChip Post
Prenatal testing: Order Code: qChip Pre
Whole Exome Sequencing: Order Code: qGenEx

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.