Duzen Laboratories

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

685 conditions/phenotypes with 535 tests
Enter text to narrow down the list

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
Amyotrophic lateral sclerosis type 11 test
Androgen resistance syndrome2 tests
Aneuploidy2 tests
Angelman syndrome3 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
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 inherited pseudoxanthoma elasticum1 test
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 chronic lymphocytic leukemia16 tests
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
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
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
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
Cervical cancer1 test
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 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
Combined PSAP deficiency1 test
Complete trisomy 21 syndrome1 test
Complex cortical dysplasia with other brain malformations 11 test
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
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
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Encephalopathy due to GLUT1 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
Fabry disease3 tests
Factor V deficiency2 tests
Factor XIII, A subunit, deficiency of1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial amyloid neuropathy1 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 anomaly7 tests
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
Galactosemia2 tests
Galactosylceramide beta-galactosidase deficiency1 test
Gastric cancer5 tests
Gastrointestinal stromal tumor3 tests
Gastrointestinal stromal tumor, familial1 test
Gaucher disease due to saposin C deficiency2 tests
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
GNPTG-mucolipidosis1 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 methylene tetrahydrofolate reductase 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
Hyperinsulinemic hypoglycemia, familial, 21 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
Infertility disorder6 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
Isolated optic nerve hypoplasia1 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 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
Lhermitte-Duclos disease3 tests
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 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
Mismatch repair cancer syndrome 11 test
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial trifunctional protein deficiency1 test
Mucolipidosis type II1 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-Torré 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 IIA1 test
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB1 test
Multiple myeloma8 tests
Multiple sulfatase deficiency1 test
Myelodysplastic syndrome18 tests
Myeloproliferative disorder, chronic, with eosinophilia1 test
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
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
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
Orofacial cleft 111 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteogenesis imperfecta, 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
Primary myelofibrosis5 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 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 syndrome2 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
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 S-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
TWIST1-related craniosynostosis2 tests
Type 2 diabetes mellitus2 tests
Type A2 brachydactyly1 test
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: 2023-12-31
CDC-EQC, Number: CDC-EQC LAB 777, Expiration date: 2023-12-31
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
UK-NEQAS, Number: UK-NEQAS 45176, Expiration date: 2024-12-31

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.