U.S. flag

An official website of the United States government

GTR Home > Laboratories > Quantitative Genomic Medicine Laboratories, SL

Quantitative Genomic Medicine Laboratories, SL

GTR Lab ID: 320529, Last updated:2020-01-23
Annual Review past due read more

Personnel

Conditions and tests

  • 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
  • Angiokeratoma corporis diffusum1 test
  • 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 31 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 syndrome1 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
  • Ciliary dyskinesia1 test
  • 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 and dental anomalies1 test
  • Creatine transporter deficiency1 test
  • Crigler-Najjar syndrome type 11 test
  • Currarino triad5 tests
  • Cyclopia5 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 glycerol kinase5 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of N-acetylglucosamine-1-phosphotransferase1 test
  • Deficiency of pyrroline-5-carboxylate reductase1 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, arthrochalasis 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
  • Epiphyseal dysplasia, multiple, 21 test
  • Ethylmalonic encephalopathy1 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
  • Galactose intolerance1 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
  • Holocarboxylase synthetase deficiency1 test
  • 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 MTHFR deficiency1 test
  • Homocystinuria, cblD type, variant 11 test
  • Hyper-IgM syndrome type 11 test
  • Hypercholesterolemia, familial, 11 test
  • Hyperhistidinemia1 test
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1 test
  • Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 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
  • 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, atypical, due to saposin A deficiency1 test
  • Lambdoidal craniosynostosis1 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 albinism1 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
  • 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 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 syndrome 15 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 disease with hypolipoproteinemia and acanthocytosis1 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 epilepsy-learning disabilities-behavior disorders syndrome1 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.