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GTR Home > Laboratories > Genetiks Genetic Diagnosis Center

Genetiks Genetic Diagnosis Center

GTR Lab ID: 320115, Last updated:2023-09-05

Personnel

Conditions and tests

  • 11p partial monosomy syndrome1 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • Abnormality of metabolism/homeostasis4 tests
  • Achondroplasia4 tests
  • Adenylosuccinate lyase deficiency1 test
  • Afibrinogenemia1 test
  • Alagille syndrome due to a JAG1 point mutation1 test
  • alpha Thalassemia2 tests
  • Alpha-1-antitrypsin deficiency1 test
  • Ambiguous genitalia1 test
  • Amyotrophic lateral sclerosis1 test
  • Androgen resistance syndrome1 test
  • Aromatase deficiency1 test
  • Aspartylglucosaminuria1 test
  • Atypical Gaucher Disease1 test
  • Autism spectrum disorder2 tests
  • Autosomal dominant nonsyndromic hearing loss1 test
  • Autosomal recessive osteopetrosis 13 tests
  • beta Thalassemia3 tests
  • Biotinidase deficiency1 test
  • Birt-Hogg-Dube syndrome1 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202 tests
  • Brugada syndrome1 test
  • Cardiofaciocutaneous syndrome 12 tests
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiovascular Risk1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cerebral folate transport deficiency1 test
  • Ceroid lipofuscinosis, neuronal, 6A1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • Cholestanol storage disease1 test
  • Clozapine response4 tests
  • Cold-induced sweating syndrome 11 test
  • Congenital adrenal hyperplasia2 tests
  • Congenital chromosomal disease12 tests
  • Congenital deafness2 tests
  • Congenital diaphragmatic hernia1 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital generalized lipodystrophy type 41 test
  • Congenital myasthenic syndrome1 test
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital neutropenia3 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Congenital prothrombin deficiency1 test
  • Cowden syndrome1 test
  • Creatine transporter deficiency1 test
  • Cystic fibrosis3 tests
  • Danon disease1 test
  • Deficiency of galactokinase1 test
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 141 test
  • Diamond-Blackfan anemia1 test
  • DiGeorge syndrome1 test
  • Dilated cardiomyopathy 1I1 test
  • Disorder of cardiovascular system1 test
  • Disorder of sexual differentiation2 tests
  • Doxepin response4 tests
  • Drug metabolism or response6 tests
  • Early-onset generalized limb-onset dystonia1 test
  • Epilepsy1 test
  • Epileptic encephalopathy1 test
  • Fabry disease1 test
  • Factor V deficiency1 test
  • Factor XII deficiency disease1 test
  • Factor XIII, A subunit, deficiency of1 test
  • Familial amyloid neuropathy1 test
  • Familial hypercholesterolemia2 tests
  • Familial Mediterranean fever2 tests
  • Familial partial lipodystrophy1 test
  • Familial partial lipodystrophy, Dunnigan type1 test
  • Familial Periodic Fever1 test
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Fetal akinesia deformation sequence 12 tests
  • Fluorouracil response1 test
  • Fragile X syndrome1 test
  • Friedreich ataxia 11 test
  • Galactosemia1 test
  • Gaucher disease1 test
  • Glycogen storage disease1 test
  • Glycogen storage disease, type II1 test
  • Griscelli syndrome type 21 test
  • Hb SS disease1 test
  • Hemochromatosis type 11 test
  • Hemolytic anemia1 test
  • Hereditary angioedema type 11 test
  • Hereditary disease10 tests
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary factor XIII deficiency disease1 test
  • Hereditary spastic paraplegia 21 test
  • Hereditary spastic paraplegia 441 test
  • Hereditary von Willebrand disease1 test
  • Huntington disease1 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, familial, 11 test
  • Hyperlipoproteinemia, type I1 test
  • Hypertriglyceridemia1 test
  • Hypertrophic cardiomyopathy 11 test
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 111 test
  • Hypertrophic cardiomyopathy 131 test
  • Hypertrophic cardiomyopathy 181 test
  • Hypertrophic cardiomyopathy 21 test
  • Hypertrophic cardiomyopathy 31 test
  • Hypertrophic cardiomyopathy 41 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypogonadism with anosmia1 test
  • Hypogonadotropic hypogonadism1 test
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Idiopathic generalized epilepsy1 test
  • Inherited obesity2 tests
  • Irinotecan response1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Landau-Kleffner syndrome1 test
  • Leber optic atrophy1 test
  • Li-Fraumeni syndrome1 test
  • LIPE-related familial partial lipodystrophy1 test
  • Lissencephaly type 1 due to doublecortin gene mutation1 test
  • Long QT syndrome 11 test
  • Long QT syndrome 21 test
  • Lymphoproliferative disorder1 test
  • Lynch syndrome4 tests
  • Maple syrup urine disease type 1A1 test
  • Maple syrup urine disease type 1B1 test
  • Maple syrup urine disease type 21 test
  • Maturity onset diabetes mellitus in young2 tests
  • Maturity-onset diabetes of the young type 11 test
  • Maturity-onset diabetes of the young type 132 tests
  • Maturity-onset diabetes of the young type 141 test
  • Maturity-onset diabetes of the young type 21 test
  • Maturity-onset diabetes of the young type 31 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 81 test
  • Metachromatic leukodystrophy1 test
  • Methylmalonic aciduria2 tests
  • Miller Dieker syndrome1 test
  • Mitochondrial disease2 tests
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis type 71 test
  • Mucopolysaccharidosis, MPS-II2 tests
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-IV-A1 test
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Multiple congenital exostosis2 tests
  • Myotonic dystrophy1 test
  • Neurofibromatosis2 tests
  • Neurofibromatosis, type 21 test
  • 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 8 northern epilepsy variant1 test
  • Neutropenia1 test
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type C21 test
  • Niemann-Pick disease, type D1 test
  • Noonan syndrome 11 test
  • Partial chromosome Y deletion1 test
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Peutz-Jeghers syndrome1 test
  • Phenylketonuria2 tests
  • Platelet-type bleeding disorder 161 test
  • PLIN1-related familial partial lipodystrophy1 test
  • PPARG-related familial partial lipodystrophy1 test
  • Prader-Willi syndrome2 tests
  • Qualitative or quantitative defects of dystrophin1 test
  • Renal cysts and diabetes syndrome1 test
  • Retinitis pigmentosa 371 test
  • Rett syndrome2 tests
  • Screening for genetic disease carrier status1 test
  • Selective serotonin reuptake inhibitor response2 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 infancy1 test
  • Shashi-Pena syndrome1 test
  • Shwachman syndrome1 test
  • Sialidosis type 21 test
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome1 test
  • Sotos syndrome1 test
  • Spinal muscular atrophy1 test
  • Spinocerebellar ataxia type 281 test
  • Spongy degeneration of central nervous system1 test
  • SRD5A3-congenital disorder of glycosylation1 test
  • Sucrase-isomaltase deficiency1 test
  • Tamoxifen response3 tests
  • Thanatophoric dysplasia type 11 test
  • Thiopurine response1 test
  • Thrombocythemia 11 test
  • Thrombophilia1 test
  • Thrombophilia due to thrombin defect1 test
  • Tuberous sclerosis syndrome2 tests
  • Tyrosinemia type I1 test
  • Unverricht-Lundborg syndrome4 tests
  • Warfarin response4 tests
  • Williams syndrome1 test
  • Wilson disease1 test
  • Wolff-Parkinson-White pattern1 test
  • Wolman disease1 test
  • X-linked lissencephaly with abnormal genitalia1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Balanced Chromosome Rearrangement Studies
  • Identity Testing
  • Marker Chromosome Identification
  • Uniparental Disomy (UPD) Testing
  • X-Chromosome Inactivation Studies
  • Whole Exome Sequencing: Order Code: 3300148
  • Prosigna Test: Order Code: 3300196, comments
  • Whole Genome Sequencing: Order Code: 3300396
  • Custom microarray analysis: Order Code: 3300408 or 3300406, comments
  • Result interpretation: Order Code: 3300418
  • OnkoGenetiks Molecular Profiling and TMB: Order Code: 3300470, comments
  • OnkoGenetiks Liquid: Order Code: 3300472, comments
  • Mutation Confirmation: Order Code: 3300482
  • OnkoGenetiks Tests: Order Code: 3300486, comments
  • Carrier testing: Order Code: 3300532, comments
  • Genetic counseling: Order Code: General Requirement
  • Non Invasive Prenatal Test: Order Code: NIPT24, comments
  • Preimplantation Genetic Diagnosis (PGD): Order Code: PGT, comments

List of certifications/licenses

Certifications

  • CAP, Number: 8732280-01, Expiration date: 2022-01-01
  • EMQN, Number: 0491, Expiration date: 2022-01-01
  • ISO9001, Number: 01.16.5878.10753.D, Expiration date: 2022-08-08
  • Turkish Ministery of Health, Number: GHDM-SM-341301, Expiration date: 2030-11-11

Participation in external programs

Standardization programs

  • Mutation-specific Databases
  • Other

Data exchange Programs

  • Mutation-specific Databases
  • Other

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.