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GTR Home > Laboratories > Duzen Laboratories

Duzen Laboratories

GTR Lab ID: 320017, Last updated:2021-09-15
Annual Review past due read more

Personnel

  • Director: Elvan Laleli-Sahin, PhD, Administrator
    Phone: 972-750-1051
    Email: elvan@duzen.com.tr
    Contact note: elvan@eoswi.com
  • Director: Ajlan Tukun, PhD, MD, Scientific Director
    Phone: +90 212-272-4800
    Email: ajlantukun@duzen.com.tr
  • Director: Yahya Laleli, PhD, MD, Medical Director
    Phone: +90 312 4278170
    Fax: +90 312 4278174
    Email: ylaleli@duzen.com.tr

Conditions and tests

  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2 tests
  • 46,XX sex reversal 11 test
  • 46,XY sex reversal 11 test
  • 46,XY sex reversal 22 tests
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
  • Aarskog syndrome1 test
  • Abacavir hypersensitivity1 test
  • Abacavir response1 test
  • Abnormality of chromosome segregation7 tests
  • Abortive cerebellar ataxia1 test
  • Acampomelic campomelic dysplasia1 test
  • Acatalasia1 test
  • Achondroplasia2 tests
  • Acid phosphatase deficiency1 test
  • Acquired polycythemia vera4 tests
  • Acrocephalosyndactyly type I1 test
  • Acromesomelic dysplasia 31 test
  • ACTH-independent macronodular adrenal hyperplasia 11 test
  • Actn3 deficiency1 test
  • Acute lymphoid leukemia39 tests
  • Acute myeloid leukemia36 tests
  • Acyl-CoA oxidase deficiency1 test
  • Adrenocortical carcinoma, hereditary1 test
  • Adrenoleukodystrophy2 tests
  • Adult hypophosphatasia2 tests
  • Adult polyglucosan body disease1 test
  • Advanced maternal age7 tests
  • Age related macular degeneration 41 test
  • Age related macular degeneration 81 test
  • Alexander disease1 test
  • alpha Thalassemia3 tests
  • Alpha-1-antitrypsin deficiency2 tests
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alpha-N-acetylgalactosaminidase deficiency type 11 test
  • Alveolar rhabdomyosarcoma1 test
  • Alzheimer disease2 tests
  • Alzheimer disease 21 test
  • Alzheimer disease 31 test
  • Alzheimer disease 41 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis type 11 test
  • Androgen resistance syndrome2 tests
  • Aneuploidy2 tests
  • Angelman syndrome3 tests
  • Angiokeratoma corporis diffusum3 tests
  • Aniridia 11 test
  • Aplastic anemia1 test
  • Arterial calcification, generalized, of infancy, 21 test
  • Aspartylglucosaminuria2 tests
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 32 tests
  • Atrophia bulborum hereditaria1 test
  • Atypical Gaucher disease due to saposin C deficiency2 tests
  • Autism spectrum disorder1 test
  • Autoimmune lymphoproliferative syndrome type 41 test
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant hypocalcemia 11 test
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant hypophosphatemic rickets1 test
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant Parkinson disease 12 tests
  • Autosomal dominant Parkinson disease 41 test
  • Autosomal dominant Parkinson disease 82 tests
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive dyskeratosis congenita 41 test
  • Autosomal recessive early-onset Parkinson disease 62 tests
  • Autosomal recessive early-onset Parkinson disease 72 tests
  • Autosomal recessive juvenile Parkinson disease 22 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive nonsyndromic hearing loss 1A1 test
  • Autosomal recessive Parkinson disease 141 test
  • Azorean disease1 test
  • B-cell acute lymphoblastic leukemia1 test
  • B-cell lymphoma2 tests
  • Bannayan-Riley-Ruvalcaba syndrome3 tests
  • Basal ganglia calcification, idiopathic, 41 test
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Becker muscular dystrophy3 tests
  • Beckwith-Wiedemann syndrome1 test
  • Behcet disease1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • Bernard Soulier syndrome1 test
  • Bernard-Soulier syndrome type C1 test
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • Bernard-Soulier syndrome, type B1 test
  • beta Thalassemia2 tests
  • Beta-D-mannosidosis1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Biotinidase deficiency1 test
  • BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I1 test
  • BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II1 test
  • Bloom syndrome1 test
  • Bohring-Opitz syndrome1 test
  • Bone osteosarcoma1 test
  • Brachydactyly type A1D1 test
  • Brachydactyly type A21 test
  • Breast adenocarcinoma7 tests
  • Breast-ovarian cancer, familial, susceptibility to, 14 tests
  • Breast-ovarian cancer, familial, susceptibility to, 24 tests
  • Brugada syndrome 12 tests
  • Burkitt lymphoma1 test
  • Campomelic dysplasia with autosomal sex reversal1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
  • Camptomelic dysplasia1 test
  • Cancer of cervix1 test
  • Carcinoma of colon4 tests
  • Carcinoma of pancreas1 test
  • Cardio-facio-cutaneous syndrome2 tests
  • Carney-Stratakis syndrome1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyl transferase II deficiency, myopathic form2 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form2 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
  • Celiac disease, susceptibility to1 test
  • Cerebral amyloid angiopathy, APP-related2 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
  • Ceroid lipofuscinosis, neuronal, 6A2 tests
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease, axonal, type 2EE1 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • Childhood hypophosphatasia2 tests
  • Childhood onset GLUT1 deficiency syndrome 21 test
  • Chitotriosidase deficiency1 test
  • Cholestanol storage disease2 tests
  • Cholesteryl ester storage disease1 test
  • Choroid plexus papilloma1 test
  • Chromosome breakage1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic lymphatic leukemia16 tests
  • Chronic myelogenous leukemia, BCR-ABL1 positive3 tests
  • Chudley-McCullough syndrome1 test
  • Chuvash polycythemia1 test
  • Citrullinemia type I1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic Hodgkin lymphoma9 tests
  • Coffin-Lowry syndrome1 test
  • Colchicine resistance1 test
  • Coloboma of optic nerve1 test
  • Colorectal cancer2 tests
  • Colorectal cancer, hereditary nonpolyposis, type 21 test
  • Colorectal cancer, susceptibility to, 121 test
  • Combined deficiency of sialidase AND beta galactosidase1 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
  • Complete trisomy 21 syndrome1 test
  • Complex cortical dysplasia with other brain malformations 11 test
  • Congenital abnormality7 tests
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital bile acid synthesis defect 41 test
  • Congenital bile acid synthesis defect 51 test
  • Congenital lactase deficiency1 test
  • Congenital malabsorptive diarrhea 41 test
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1 test
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Coronary artery disease, susceptibility to1 test
  • Corpus callosum agenesis-abnormal genitalia syndrome1 test
  • Costello syndrome1 test
  • Cowden syndrome 13 tests
  • Cowden syndrome 21 test
  • Craniofrontonasal syndrome1 test
  • Crouzon syndrome1 test
  • Cyclical neutropenia1 test
  • CYP2C19-related poor drug metabolism1 test
  • Cystic fibrosis4 tests
  • Cystinosis, atypical nephropathic1 test
  • Danon disease2 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of ferroxidase1 test
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Dermatitis, atopic, 21 test
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 21 test
  • Developmental and epileptic encephalopathy, 71 test
  • Diabetes mellitus, transient neonatal, 31 test
  • DiGeorge syndrome1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1V1 test
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Drash syndrome1 test
  • Duane retraction syndrome 21 test
  • Duane-radial ray syndrome1 test
  • Duchenne muscular dystrophy3 tests
  • Dyggve-Melchior-Clausen syndrome1 test
  • Dyskeratosis congenita, autosomal dominant 11 test
  • Dyskeratosis congenita, autosomal dominant 21 test
  • Dysplastic gangliocytoma of the cerebellum3 tests
  • Dystonia 52 tests
  • Dystonia 91 test
  • Dystonia, early-onset atypical, with myoclonic features1 test
  • Early-onset generalized limb-onset dystonia1 test
  • Ectodermal dysplasia1 test
  • Ehlers-danlos syndrome, arthrochalasia type, 21 test
  • Ehlers-Danlos syndrome, cardiac valvular type1 test
  • Encephalopathy due to GLUT1 deficiency1 test
  • Encephalopathy due to prosaposin deficiency1 test
  • Encephalopathy, acute, infection-induced, susceptibility to, 41 test
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
  • Endometrial carcinoma3 tests
  • Epidermal nevus1 test
  • Epilepsy1 test
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Epilepsy, idiopathic generalized, susceptibility to, 81 test
  • Epilepsy, progressive myoclonic 2A (Lafora)1 test
  • Epilepsy, progressive myoclonic 2B (Lafora)1 test
  • Episodic kinesigenic dyskinesia 11 test
  • Essential hypertension2 tests
  • Ewing sarcoma2 tests
  • Extra unidentified structurally abnormal chromosome1 test
  • Factor V deficiency2 tests
  • Factor XIII, A subunit, deficiency of1 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial cancer of breast4 tests
  • Familial cold autoinflammatory syndrome1 test
  • Familial hemophagocytic lymphohistiocytosis 21 test
  • Familial hemophagocytic lymphohistiocytosis 31 test
  • Familial hemophagocytic lymphohistiocytosis 41 test
  • Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome1 test
  • Familial hypobetalipoproteinemia 11 test
  • Familial hypobetalipoproteinemia 21 test
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial Mediterranean fever2 tests
  • Familial Mediterranean fever, autosomal dominant2 tests
  • Familial meningioma2 tests
  • Familial multiple polyposis syndrome1 test
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
  • Fanconi anemia1 test
  • Fanconi renotubular syndrome 21 test
  • Fanconi-Bickel syndrome2 tests
  • Farber lipogranulomatosis1 test
  • Fatal familial insomnia1 test
  • Febrile seizures, familial, 3a1 test
  • Fetal ultrasound soft marker7 tests
  • FH: Chromosomal anomaly7 tests
  • Fibromatosis, gingival, 11 test
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
  • Finnish congenital nephrotic syndrome1 test
  • Fluorouracil response1 test
  • Fragile X syndrome2 tests
  • Fragile X-associated tremor/ataxia syndrome2 tests
  • Frasier syndrome1 test
  • Friedreich ataxia 11 test
  • Frontotemporal dementia1 test
  • Fucosidosis2 tests
  • Galactose intolerance2 tests
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gastrointestinal stroma tumor3 tests
  • Gastrointestinal stromal tumor, familial1 test
  • Gaucher disease perinatal lethal2 tests
  • Gaucher disease type I4 tests
  • Gaucher disease type II3 tests
  • Gaucher disease type III3 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome2 tests
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Gilbert syndrome2 tests
  • Glaucoma 1, open angle, A1 test
  • Glaucoma, normal tension, susceptibility to1 test
  • Glioma susceptibility 13 tests
  • Glioma susceptibility 51 test
  • Global developmental delay7 tests
  • Glucocorticoid-remediable aldosteronism1 test
  • Glucose-6-phosphate transport defect1 test
  • Glutaric acidemia IIc1 test
  • Glutaric aciduria, type 11 test
  • Glutaryl-CoA oxidase deficiency1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
  • Glycogen storage disease due to muscle and heart glycogen synthase 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 IXa11 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease IXd1 test
  • Glycogen storage disease type III1 test
  • Glycogen storage disease type X1 test
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type II4 tests
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V1 test
  • Glycogen storage disease, type VI1 test
  • Glycogen storage disease, type VII1 test
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
  • GM1 gangliosidosis1 test
  • Growth delay2 tests
  • Growth delay due to insulin-like growth factor I resistance1 test
  • GTP cyclohydrolase I deficiency1 test
  • Hb SS disease1 test
  • Heimler syndrome 21 test
  • Hemochromatosis type 12 tests
  • Hepatocellular carcinoma5 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 11 test
  • Hereditary angioedema type 31 test
  • Hereditary antithrombin deficiency1 test
  • Hereditary cancer2 tests
  • Hereditary cryohydrocytosis with reduced stomatin1 test
  • Hereditary diffuse gastric adenocarcinoma2 tests
  • Hereditary factor IX deficiency disease2 tests
  • Hereditary factor VIII deficiency disease2 tests
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary neutrophilia1 test
  • Hereditary pancreatitis2 tests
  • Hereditary spastic paraplegia 5A1 test
  • Hermansky-Pudlak syndrome 61 test
  • HNSHA due to aldolase A deficiency1 test
  • Holt-Oram syndrome1 test
  • Homocystinuria due to MTHFR deficiency2 tests
  • Human HOXA1 syndromes1 test
  • Huntington disease1 test
  • Hurler syndrome2 tests
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency2 tests
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 21 test
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B2 tests
  • Hypercholesterolemia, familial, 11 test
  • Hypereosinophilic syndrome, idiopathic, resistant to imatinib1 test
  • Hyperglycinuria1 test
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia, type I1 test
  • Hypertrophic cardiomyopathy 11 test
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 21 test
  • Hypertrophic cardiomyopathy 41 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypobetalipoproteinemia1 test
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia1 test
  • Hypokalemic periodic paralysis1 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 11 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypospadias 1, X-linked2 tests
  • Ichthyosis vulgaris1 test
  • Ichthyosis, hystrix-like, with hearing loss1 test
  • Idiopathic hypereosinophilic syndrome2 tests
  • Iminoglycinuria, digenic1 test
  • Infantile convulsions and choreoathetosis1 test
  • Infantile hypophosphatasia2 tests
  • Infantile neuroaxonal dystrophy1 test
  • Infertility6 tests
  • Inflammatory bowel disease 131 test
  • Inherited Creutzfeldt-Jakob disease1 test
  • Intellectual disability3 tests
  • Intellectual disability, X-linked, with or without seizures, arx-related1 test
  • Interstitial lung disease 21 test
  • Isolated microphthalmia 51 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Jackson-Weiss syndrome2 tests
  • Jervell and Lange-Nielsen syndrome 22 tests
  • Joubert syndrome 261 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
  • Juvenile nephropathic cystinosis1 test
  • Kartagener syndrome1 test
  • Kearns-Sayre syndrome1 test
  • Kennedy disease3 tests
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Kostmann syndrome2 tests
  • Krabbe disease, atypical, due to saposin A deficiency1 test
  • Kufor-Rakeb syndrome3 tests
  • Lafora disease1 test
  • Langer mesomelic dysplasia syndrome1 test
  • Leber optic atrophy1 test
  • Leber optic atrophy, susceptibility to1 test
  • Leigh syndrome due to mitochondrial complex IV deficiency1 test
  • Leri-Weill dyschondrosteosis1 test
  • Lethal congenital glycogen storage disease of heart1 test
  • Leukemia4 tests
  • Leukemia, Philadelphia chromosome-positive, resistant to imatinib1 test
  • Leukocyte adhesion deficiency1 test
  • Li-Fraumeni syndrome 11 test
  • Li-Fraumeni syndrome 22 tests
  • Linear nevus sebaceous syndrome1 test
  • Lipoprotein glomerulopathy1 test
  • Lissencephaly due to LIS1 mutation1 test
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Long QT syndrome 12 tests
  • Long QT syndrome 21 test
  • Long QT syndrome 51 test
  • Lowe syndrome1 test
  • Lung adenocarcinoma3 tests
  • Lung cancer9 tests
  • Lymphoma, non-Hodgkin, familial17 tests
  • Lynch syndrome 13 tests
  • Lysosomal acid lipase deficiency2 tests
  • Lysosomal storage disease1 test
  • Male infertility6 tests
  • Malignant eosinophil proliferation1 test
  • Malignant melanoma of skin2 tests
  • Malignant tumor of esophagus1 test
  • Malignant tumor of prostate3 tests
  • Malignant tumor of urinary bladder8 tests
  • Maple syrup urine disease type 1A1 test
  • Maple syrup urine disease type 1B1 test
  • Maple syrup urine disease type 21 test
  • Marfan syndrome1 test
  • Maternal age 35+ during pregnancy7 tests
  • Maturity-onset diabetes of the young type 12 tests
  • Maturity-onset diabetes of the young type 101 test
  • Maturity-onset diabetes of the young type 131 test
  • Maturity-onset diabetes of the young type 22 tests
  • Maturity-onset diabetes of the young type 32 tests
  • McCune-Albright syndrome1 test
  • Meacham syndrome1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Medullary thyroid carcinoma1 test
  • Meier-Gorlin syndrome 31 test
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • Melanoma, cutaneous malignant, susceptibility to, 91 test
  • Melanoma-pancreatic cancer syndrome1 test
  • MERRF syndrome2 tests
  • Mesothelioma1 test
  • Metachromatic leukodystrophy2 tests
  • Methemoglobinemia type 21 test
  • Methemoglobinemia, type I1 test
  • Methylmalonic aciduria1 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Microdeletion syndromes1 test
  • Microphthalmia with brain and digit anomalies1 test
  • Migraine, familial hemiplegic, 31 test
  • Miller Dieker syndrome1 test
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
  • Mitochondrial trifunctional protein deficiency1 test
  • Mucolipidosis type II1 test
  • Mucolipidosis type III gamma1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 72 tests
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-II3 tests
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B2 tests
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-III-D1 test
  • Mucopolysaccharidosis, MPS-IV-A2 tests
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Mucosa-associated lymphoma1 test
  • Muir-TorrĂ© syndrome1 test
  • Mulibrey nanism syndrome1 test
  • Multiple congenital anomalies2 tests
  • Multiple endocrine neoplasia type 41 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b1 test
  • Multiple myeloma8 tests
  • Multiple sulfatase deficiency1 test
  • Myelodysplastic syndrome18 tests
  • Myelofibrosis5 tests
  • Myofibromatosis, infantile, 11 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myokymia1 test
  • Myopathy, congenital, with excess of muscle spindles1 test
  • Myxoid liposarcoma1 test
  • Nanophthalmos 21 test
  • Navajo neurohepatopathy1 test
  • Neonatal severe primary hyperparathyroidism1 test
  • Neoplasm of ovary1 test
  • Nephrogenic diabetes insipidus1 test
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephropathic cystinosis2 tests
  • Nephrotic syndrome, type 21 test
  • Nesidioblastosis1 test
  • NEUROBLASTOMA, SUSCEPTIBILITY TO3 tests
  • Neurodegeneration with brain iron accumulation 2B1 test
  • Neuroepithelioma2 tests
  • Neurofibromatosis, type 12 tests
  • Neurofibromatosis, type 22 tests
  • Neuronal ceroid lipofuscinosis 12 tests
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 111 test
  • Neuronal ceroid lipofuscinosis 131 test
  • Neuronal ceroid lipofuscinosis 22 tests
  • Neuronal ceroid lipofuscinosis 32 tests
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neutral 1 amino acid transport defect1 test
  • Neutropenia, severe congenital, 1, autosomal dominant2 tests
  • Niemann-Pick disease, type A3 tests
  • Niemann-Pick disease, type B3 tests
  • Niemann-Pick disease, type C13 tests
  • Niemann-Pick disease, type C23 tests
  • Niemann-Pick disease, type D1 test
  • Non-Hodgkin lymphoma4 tests
  • Non-ketotic hyperglycinemia1 test
  • Non-small cell lung carcinoma8 tests
  • Nonpapillary renal cell carcinoma2 tests
  • Noonan syndrome 11 test
  • Noonan syndrome 41 test
  • Noonan syndrome 61 test
  • Obesity, autosomal dominant1 test
  • Ocular cystinosis1 test
  • Oculootoradial syndrome1 test
  • Odontohypophosphatasia2 tests
  • Oligodendroglioma3 tests
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
  • Optic nerve hypoplasia, bilateral1 test
  • Orofacial cleft 111 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III1 test
  • Osteogenesis imperfecta with normal sclerae, dominant form1 test
  • Osteogenesis imperfecta, recessive perinatal lethal1 test
  • Osteoglophonic dysplasia1 test
  • Pancytopenia due to IKZF1 mutations2 tests
  • Papillary renal cell carcinoma type 11 test
  • Paragangliomas 41 test
  • Parkinson disease 5, autosomal dominant, susceptibility to1 test
  • Partial androgen insensitivity syndrome2 tests
  • Partington syndrome1 test
  • Pearson syndrome1 test
  • Permanent neonatal diabetes mellitus 12 tests
  • Peroxisome biogenesis disorder 10A (Zellweger)1 test
  • Peroxisome biogenesis disorder 11A (Zellweger)1 test
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A (Zellweger)1 test
  • Peroxisome biogenesis disorder 13A (Zellweger)1 test
  • Peroxisome biogenesis disorder 14B1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4B1 test
  • Peroxisome biogenesis disorder 5A (Zellweger)1 test
  • Peroxisome biogenesis disorder 5B1 test
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A (Zellweger)1 test
  • Peroxisome biogenesis disorder 7B1 test
  • Peroxisome biogenesis disorder 8A (Zellweger)1 test
  • Peroxisome biogenesis disorder 8B1 test
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorder type 3B1 test
  • Perrault syndrome 11 test
  • Persistent Mullerian duct syndrome1 test
  • Persistent mullerian duct syndrome, type II1 test
  • Peutz-Jeghers syndrome1 test
  • Pfeiffer syndrome2 tests
  • PGM1-congenital disorder of glycosylation1 test
  • Phenylketonuria2 tests
  • Pheochromocytoma2 tests
  • Phosphate transport defect1 test
  • Phytanic acid storage disease1 test
  • Pigmentary pallidal degeneration1 test
  • Pituitary adenoma 3, multiple types1 test
  • Pituitary adenoma predisposition1 test
  • Pituitary hormone deficiency, combined, 22 tests
  • PMM2-congenital disorder of glycosylation1 test
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease, adult type1 test
  • Postmenopausal osteoporosis1 test
  • Prader-Willi syndrome2 tests
  • Precocious puberty, central, 21 test
  • Premature ovarian failure 12 tests
  • Premature ovarian failure 31 test
  • Primary familial polycythemia due to EPO receptor mutation5 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
  • 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 osseous heteroplasia1 test
  • Progressive pseudorheumatoid dysplasia1 test
  • Propionic acidemia1 test
  • Prostate cancer, somatic3 tests
  • Prostate cancer, susceptibility to1 test
  • Pseudo-Hurler polydystrophy1 test
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudohypoparathyroidism type I A1 test
  • Pseudopseudohypoparathyroidism1 test
  • Pseudoxanthoma elasticum1 test
  • Pseudoxanthoma elasticum, forme fruste1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 11 test
  • Pulmonary fibrosis, idiopathic, susceptibility to1 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyknodysostosis1 test
  • Recurrent spontaneous abortion4 tests
  • Renal cysts and diabetes syndrome2 tests
  • Rett syndrome2 tests
  • Rett syndrome, congenital variant1 test
  • Rett syndrome, preserved speech variant2 tests
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Rhizomelic chondrodysplasia punctata type 51 test
  • Robinow-Sorauf syndrome2 tests
  • Rubinstein-Taybi syndrome2 tests
  • Saethre-Chotzen syndrome2 tests
  • Saethre-Chotzen syndrome with eyelid anomalies2 tests
  • Sandhoff disease1 test
  • Schwannomatosis 12 tests
  • Sea-blue histiocyte syndrome1 test
  • Seizures, benign familial infantile, 21 test
  • Seizures, benign neonatal, 11 test
  • Selective pituitary resistance to thyroid hormone1 test
  • Severe early-childhood-onset retinal dystrophy1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Short QT syndrome type 11 test
  • Short QT syndrome type 22 tests
  • SHOX-related short stature1 test
  • Shwachman syndrome1 test
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis type 21 test
  • Silver-Russell syndrome 12 tests
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome1 test
  • Smith-McCort dysplasia1 test
  • Sneddon syndrome1 test
  • Somatotroph adenoma1 test
  • Sotos syndrome 12 tests
  • Sphingolipid activator protein 1 deficiency1 test
  • Spinocerebellar ataxia 72 tests
  • Spinocerebellar ataxia type 12 tests
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 22 tests
  • Spinocerebellar ataxia type 62 tests
  • Spinocerebellar ataxia type 81 test
  • Spondyloarthropathy, susceptibility to, 11 test
  • Spongy degeneration of central nervous system1 test
  • Stargardt disease 31 test
  • Steinert myotonic dystrophy syndrome1 test
  • Sterol carrier protein 2 deficiency1 test
  • Stomach cancer5 tests
  • Subcortical band heterotopia1 test
  • Surfactant metabolism dysfunction, pulmonary, 21 test
  • Synovial sarcoma2 tests
  • T-CELL LEUKEMIA/LYMPHOMA 1A2 tests
  • Tay-Sachs disease2 tests
  • Tay-Sachs disease, variant AB1 test
  • Thiopurine methyltransferase deficiency1 test
  • Thrombocythemia 11 test
  • Thrombophilia due to activated protein C resistance2 tests
  • Thrombophilia due to thrombin defect1 test
  • Thrombophilia, X-linked, due to factor 9 defect2 tests
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Tolbutamide response1 test
  • Trichothiodystrophy 4, nonphotosensitive1 test
  • Trigonocephaly 11 test
  • Tropical pancreatitis1 test
  • Turcot syndrome1 test
  • TWIST1-related craniosynostosis2 tests
  • Type II diabetes mellitus2 tests
  • Tyrosinemia type I1 test
  • Vasculitis due to ADA2 deficiency1 test
  • Velocardiofacial syndrome1 test
  • Very long chain acyl-CoA dehydrogenase deficiency2 tests
  • Von Hippel-Lindau syndrome1 test
  • Waardenburg syndrome type 11 test
  • Warfarin response2 tests
  • Warfarin sensitivity, X-linked2 tests
  • Werdnig-Hoffmann disease2 tests
  • Williams syndrome1 test
  • Wilson disease2 tests
  • Wiskott-Aldrich syndrome1 test
  • Wolff-Parkinson-White pattern1 test
  • Wolman disease1 test
  • X inactivation, familial skewed1 test
  • X-linked Alport syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Balanced Chromosome Rearrangement Studies
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Carrier testing
  • Genetic counseling
  • Marker Chromosome Identification
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Result interpretation
  • Specimen Source Identification
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing

List of certifications/licenses

Certifications

  • CAP-EQC, Number: CAP-EQC 3278501, Expiration date: 2021-12-31
  • CDC-EQC, Number: CDC-EQC LAB 777, Expiration date: 2021-12-31
  • ISO15189, Number: AB-0002-TL, Expiration date: 2023-12-09
  • TR-MoH, Number: TR-MoH GHDM-SM/34.11/01, Expiration date: 2030-11-16
  • TR-MoH, Number: TR-MoH GHDM-SM/06.11/01, Expiration date: 2030-12-04

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.