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GTR Home > Laboratories > Genesys Diagnostics

Genesys Diagnostics

GTR Lab ID: 509219, Last updated:2023-10-16

Personnel

  • Director: Frank Bauer, MD, ABPath, Medical Director
  • Divakar Ahuja, BS, Administrator
    Phone: 860-574-9172
    Fax: 860-574-9264

Conditions and tests

  • 3-Methylglutaconic aciduria type 22 tests
  • 3-methylglutaconic aciduria type 52 tests
  • 46,XY sex reversal 21 test
  • Achondrogenesis, type IB1 test
  • Acid sphingomyelinase deficiency1 test
  • Actin accumulation myopathy2 tests
  • Acute myeloid leukemia1 test
  • Adrenoleukodystrophy1 test
  • Adult polyglucosan body disease1 test
  • Aicardi-Goutieres syndrome 21 test
  • Alanine glyoxylate aminotransferase deficiency1 test
  • alpha Thalassemia2 tests
  • Alpha-1-antitrypsin deficiency1 test
  • Alpha-N-acetylgalactosaminidase deficiency1 test
  • Alstrom syndrome4 tests
  • Anterior segment dysgenesis 61 test
  • Aplastic anemia1 test
  • Argininosuccinate lyase deficiency1 test
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
  • Arrhythmogenic right ventricular cardiomyopathy4 tests
  • Arrhythmogenic right ventricular dysplasia 122 tests
  • Arrhythmogenic right ventricular dysplasia 52 tests
  • Arterial tortuosity syndrome2 tests
  • Aspartylglucosaminuria1 test
  • Asphyxiating thoracic dystrophy 31 test
  • Ataxia-telangiectasia syndrome7 tests
  • Atelosteogenesis type II1 test
  • Atransferrinemia1 test
  • Atrial fibrillation, familial, 112 tests
  • Atrial fibrillation, familial, 132 tests
  • Atrial fibrillation, familial, 62 tests
  • Atrial fibrillation, familial, 72 tests
  • Atrial fibrillation, familial, 92 tests
  • Atrioventricular septal defect, susceptibility to, 22 tests
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant proximal spinal muscular atrophy1 test
  • Autosomal recessive limb-girdle muscular dystrophy3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
  • Autosomal recessive nonsyndromic hearing loss 1A1 test
  • Autosomal recessive polycystic kidney disease1 test
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Bacterial urinary tract infection1 test
  • BAP1-related tumor predisposition syndrome4 tests
  • Bardet-Biedl syndrome 11 test
  • Bardet-Biedl syndrome 21 test
  • Becker muscular dystrophy2 tests
  • Beckwith-Wiedemann syndrome4 tests
  • Beta-thalassemia HBB/LCRB1 test
  • Biotinidase deficiency1 test
  • Birt-Hogg-Dube syndrome3 tests
  • Bloom syndrome4 tests
  • Breast-ovarian cancer, familial, susceptibility to, 16 tests
  • Breast-ovarian cancer, familial, susceptibility to, 26 tests
  • Bronchiectasis with or without elevated sweat chloride 11 test
  • Brooke-Spiegler syndrome1 test
  • Brugada syndrome3 tests
  • Brugada syndrome 12 tests
  • CafĂ©-au-lait macules with pulmonary stenosis6 tests
  • Cardio-facio-cutaneous syndrome3 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Carney complex, type 15 tests
  • Carnitine palmitoyltransferase II deficiency1 test
  • Catecholaminergic polymorphic ventricular tachycardia2 tests
  • CBL-related disorder3 tests
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease2 tests
  • CEP290-related ciliopathy1 test
  • Childhood hypophosphatasia1 test
  • Cholestanol storage disease1 test
  • Ciliopathy1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic homocystinuria4 tests
  • Classic or attenuated familial adenomatous polyposis4 tests
  • CNGB3-related retinopathy1 test
  • Cobalamin C disease1 test
  • Colorectal cancer, hereditary nonpolyposis, type 26 tests
  • Combined malonic and methylmalonic acidemia1 test
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital disorder of glycosylation, type IIw1 test
  • Congenital long QT syndrome3 tests
  • Congenital myasthenic syndrome 4A1 test
  • Congenital myasthenic syndrome 4B1 test
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myopathy 2b, severe infantile, autosomal recessive2 tests
  • Congenital myopathy 2c, severe infantile, autosomal dominant2 tests
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form1 test
  • Costello syndrome6 tests
  • Creatine transporter deficiency1 test
  • Curry-Hall syndrome1 test
  • Cystic fibrosis1 test
  • Danon disease2 tests
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Developmental delay and seizures with or without movement abnormalities1 test
  • Diastrophic dysplasia1 test
  • DICER1-related tumor predisposition5 tests
  • Dilated cardiomyopathy 1GG2 tests
  • Dilated cardiomyopathy 1II2 tests
  • Dilated cardiomyopathy 1J2 tests
  • Dilated cardiomyopathy 1NN3 tests
  • DK1-congenital disorder of glycosylation2 tests
  • Dominant beta-thalassemia1 test
  • Donnai-Barrow syndrome1 test
  • Drash syndrome2 tests
  • Drug metabolism or response8 tests
  • Duane-radial ray syndrome3 tests
  • Duchenne muscular dystrophy2 tests
  • Early infantile epileptic encephalopathy with suppression bursts1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
  • Ehlers-Danlos syndrome, classic type2 tests
  • Ehlers-Danlos syndrome, type 42 tests
  • Eichsfeld type congenital muscular dystrophy2 tests
  • Ellis-van Creveld syndrome1 test
  • Erythrocytosis, familial, 61 test
  • Exostoses, multiple, type 11 test
  • Exostoses, multiple, type 21 test
  • EYS-related retinopathy1 test
  • Fabry disease3 tests
  • Familial adenomatous polyposis 25 tests
  • Familial apolipoprotein C-II deficiency2 tests
  • Familial cancer of breast8 tests
  • Familial dysautonomia1 test
  • Familial hemophagocytic lymphohistiocytosis 22 tests
  • Familial hypobetalipoproteinemia 12 tests
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial isolated arrhythmogenic right ventricular dysplasia2 tests
  • Familial Mediterranean fever1 test
  • Familial ovarian cancer8 tests
  • Familial thoracic aortic aneurysm and aortic dissection4 tests
  • Familial type 3 hyperlipoproteinemia2 tests
  • Familial type 5 hyperlipoproteinemia2 tests
  • Fanconi anemia4 tests
  • Fanconi anemia complementation group A3 tests
  • Fanconi anemia complementation group B1 test
  • Fanconi anemia complementation group C5 tests
  • Fanconi anemia complementation group D16 tests
  • Fanconi anemia complementation group D21 test
  • Fanconi anemia complementation group E1 test
  • Fanconi anemia complementation group F1 test
  • Fanconi anemia complementation group G2 tests
  • Fanconi anemia complementation group I1 test
  • Fanconi anemia complementation group J5 tests
  • Fanconi anemia complementation group L1 test
  • Fanconi anemia complementation group N6 tests
  • Fanconi anemia, complementation group S6 tests
  • Fasting plasma glucose level quantitative trait locus 52 tests
  • Finnish congenital nephrotic syndrome1 test
  • Fragile X syndrome2 tests
  • Fragile X-associated tremor/ataxia syndrome2 tests
  • Fraser syndrome 31 test
  • Friedreich ataxia3 tests
  • Galactosemia1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gastric adenocarcinoma and proximal polyposis of the stomach4 tests
  • Gastrointestinal stromal tumor3 tests
  • GATA2 deficiency with susceptibility to MDS/AML1 test
  • Gaucher disease1 test
  • Generalized juvenile polyposis/juvenile polyposis coli3 tests
  • Glaucoma 3, primary congenital, D2 tests
  • Glaucoma 3A1 test
  • Glucocorticoid deficiency 52 tests
  • Glucose-6-phosphate transport defect1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
  • Glycogen storage disease, type II3 tests
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V1 test
  • Gorlin syndrome2 tests
  • Haddad syndrome2 tests
  • Hb SS disease1 test
  • Heinz body anemia1 test
  • Hemochromatosis type 13 tests
  • Hemoglobin H disease2 tests
  • Hereditary ATTR amyloidosis2 tests
  • Hereditary cancer-predisposing syndrome1 test
  • Hereditary diffuse gastric adenocarcinoma5 tests
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary leiomyomatosis and renal cell cancer4 tests
  • Hereditary nonpolyposis colon cancer8 tests
  • Hereditary pancreatitis1 test
  • Hereditary persistence of fetal hemoglobin1 test
  • Hereditary pheochromocytoma-paraganglioma7 tests
  • Hereditary spastic paraplegia 21 test
  • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome1 test
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 31 test
  • Heterotaxy, visceral, 1, X-linked2 tests
  • Heterotaxy, visceral, 5, autosomal2 tests
  • Holt-Oram syndrome3 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 11 test
  • Hyperalphalipoproteinemia 12 tests
  • Hypercholesterolemia, autosomal dominant, 32 tests
  • Hypercholesterolemia, autosomal dominant, type B2 tests
  • Hypercholesterolemia, familial, 13 tests
  • Hypercholesterolemia, familial, 42 tests
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperlipidemia, familial combined, LPL related2 tests
  • Hyperlipoproteinemia, type 1D2 tests
  • Hyperlipoproteinemia, type I2 tests
  • Hyperparathyroidism 2 with jaw tumors5 tests
  • Hypertriglyceridemia 12 tests
  • Hypertriglyceridemia 22 tests
  • Hypertrophic cardiomyopathy3 tests
  • Hypertrophic cardiomyopathy 12 tests
  • Hypertrophic cardiomyopathy 102 tests
  • Hypertrophic cardiomyopathy 122 tests
  • Hypertrophic cardiomyopathy 252 tests
  • Hypertrophic cardiomyopathy 42 tests
  • Ichthyosis, hystrix-like, with hearing loss1 test
  • IMAGe syndrome4 tests
  • Intellectual disability, autosomal dominant 332 tests
  • Interstitial lung disease due to ABCA3 deficiency1 test
  • Intrinsic cardiomyopathy2 tests
  • Isolated hereditary giant platelet disorder1 test
  • Joubert syndrome 21 test
  • Joubert syndrome 31 test
  • Juvenile polyposis syndrome5 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome5 tests
  • Juvenile retinoschisis1 test
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • L1 syndrome1 test
  • LAMA2-related muscular dystrophy2 tests
  • Left ventricular noncompaction 102 tests
  • Left ventricular noncompaction 72 tests
  • Leigh syndrome8 tests
  • Lipase deficiency, combined2 tests
  • Lipoprotein glomerulopathy2 tests
  • Loeys-Dietz syndrome2 tests
  • Loeys-Dietz syndrome 22 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
  • Long QT syndrome2 tests
  • Long QT syndrome 102 tests
  • Long QT syndrome 132 tests
  • Long QT syndrome 52 tests
  • Long QT syndrome 92 tests
  • Lymphoma, non-Hodgkin, familial1 test
  • Lynch syndrome6 tests
  • Lynch syndrome 16 tests
  • Maple syrup urine disease1 test
  • Maple syrup urine disease type 1A1 test
  • Maple syrup urine disease type 1B1 test
  • Meckel syndrome, type 21 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Medulloblastoma2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Melanoma, cutaneous malignant, susceptibility to, 33 tests
  • Melanoma-pancreatic cancer syndrome3 tests
  • Metachromatic leukodystrophy1 test
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Methemoglobinemia, beta-globin type1 test
  • Methylcrotonyl-CoA carboxylase deficiency1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Mevalonic aciduria1 test
  • Microcephaly, normal intelligence and immunodeficiency6 tests
  • Mismatch repair cancer syndrome 16 tests
  • Mismatch repair cancer syndrome 26 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2 tests
  • Mosaic variegated aneuploidy syndrome 13 tests
  • Mosaic variegated aneuploidy syndrome 23 tests
  • Mucolipidosis type II1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type 11 test
  • Muir-TorrĂ© syndrome6 tests
  • Multiple endocrine neoplasia type 43 tests
  • Multiple endocrine neoplasia, type 14 tests
  • MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA3 tests
  • MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB3 tests
  • Multiple epiphyseal dysplasia1 test
  • Muscular dystrophy, limb-girdle, autosomal dominant1 test
  • Mutilating keratoderma1 test
  • Myhre syndrome5 tests
  • Myopathy caused by variation in FKRP3 tests
  • Myopathy caused by variation in FKTN3 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure2 tests
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Nemaline myopathy 21 test
  • Nephrotic syndrome, type 21 test
  • Neuroblastoma, susceptibility to, 32 tests
  • Neurofibromatosis, familial spinal6 tests
  • Neurofibromatosis, type 16 tests
  • Neurofibromatosis, type 22 tests
  • Neurofibromatosis-Noonan syndrome6 tests
  • Neuronopathy, distal hereditary motor, autosomal dominant2 tests
  • Niemann-Pick disease, type C11 test
  • Niemann-Pick disease, type C21 test
  • NKX2.5-related congenital, conduction and myopathic heart disease3 tests
  • Non-small cell lung carcinoma1 test
  • Non-syndromic X-linked intellectual disability1 test
  • Nonsyndromic genetic hearing loss3 tests
  • Noonan syndrome3 tests
  • Noonan syndrome 13 tests
  • Noonan syndrome with multiple lentigines3 tests
  • Noonan syndrome-like disorder with loose anagen hair 13 tests
  • Oculocutaneous albinism type 11 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Palmoplantar keratoderma-esophageal carcinoma syndrome2 tests
  • Papillary renal cell carcinoma type 12 tests
  • Parkinson disease1 test
  • Pelizaeus-Merzbacher disease1 test
  • Pendred syndrome1 test
  • Perlman syndrome2 tests
  • Peroxisome biogenesis disorder1 test
  • Peutz-Jeghers syndrome5 tests
  • Phenylketonuria1 test
  • Phosphate transport defect1 test
  • Pituitary adenoma 3, multiple types3 tests
  • PMM2-congenital disorder of glycosylation1 test
  • POLD1-related polyposis and colorectal cancer syndrome4 tests
  • POLE-related polyposis and colorectal cancer syndrome3 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polymerase proofreading-related adenomatous polyposis4 tests
  • Pontocerebellar hypoplasia type 61 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Premature ovarian failure 12 tests
  • Primary ciliary dyskinesia 31 test
  • Primary dilated cardiomyopathy4 tests
  • Primary hyperoxaluria type 31 test
  • Progressive familial heart block type IB2 tests
  • Progressive muscular dystrophy3 tests
  • Progressive osseous heteroplasia3 tests
  • Pseudohypoparathyroidism type 1B3 tests
  • Pseudohypoparathyroidism type 1C3 tests
  • Pseudohypoparathyroidism type I A3 tests
  • PTEN hamartoma tumor syndrome7 tests
  • Pulmonary arterial hypertension1 test
  • Pyruvate dehydrogenase E3 deficiency1 test
  • Recessive dystrophic epidermolysis bullosa1 test
  • Renal carnitine transport defect1 test
  • Retinitis pigmentosa 591 test
  • Retinoblastoma2 tests
  • Rhabdoid tumor predisposition syndrome 13 tests
  • Rothmund-Thomson syndrome1 test
  • RPGR-related retinopathy1 test
  • RYR1-related myopathy2 tests
  • Short QT syndrome2 tests
  • Short QT syndrome type 32 tests
  • Shwachman syndrome1 test
  • Simpson-Golabi-Behmel syndrome type 14 tests
  • Sitosterolemia 12 tests
  • Sitosterolemia 22 tests
  • Smith-Lemli-Opitz syndrome1 test
  • Somatotroph adenoma2 tests
  • Sotos syndrome4 tests
  • Spermatogenic failure 283 tests
  • Spongy degeneration of central nervous system1 test
  • Supravalvar aortic stenosis2 tests
  • Tay-Sachs disease1 test
  • Tetralogy of Fallot2 tests
  • Thrombophilia, X-linked, due to factor 9 defect1 test
  • Tibial muscular dystrophy2 tests
  • Trichothiodystrophy 1, photosensitive1 test
  • Trimethylaminuria1 test
  • TTN-related myopathy2 tests
  • Tuberous sclerosis syndrome4 tests
  • Tyrosinase-positive oculocutaneous albinism1 test
  • Tyrosinemia type I1 test
  • Ulnar-mammary syndrome2 tests
  • Usher syndrome type 11 test
  • Usher syndrome type 21 test
  • Usher syndrome type 31 test
  • VACTERL association, X-linked, with or without hydrocephalus2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency1 test
  • Vesicoureteral reflux 81 test
  • Vitamin D-dependent rickets, type 1A1 test
  • Von Hippel-Lindau syndrome5 tests
  • Weaver syndrome3 tests
  • Werdnig-Hoffmann disease1 test
  • Werner syndrome2 tests
  • Wilms tumor 14 tests
  • Wilson disease1 test
  • X-linked Emery-Dreifuss muscular dystrophy2 tests
  • X-linked myopathy with postural muscle atrophy2 tests
  • X-linked Opitz G/BBB syndrome1 test
  • X-linked scapuloperoneal muscular dystrophy2 tests
  • Xeroderma pigmentosum group A1 test
  • Xeroderma pigmentosum group B1 test
  • Xeroderma pigmentosum, group C2 tests
  • Xeroderma pigmentosum, group D2 tests
  • Xeroderma pigmentosum, group E1 test
  • Xeroderma pigmentosum, group F1 test
  • Xeroderma pigmentosum, group G1 test

List of services

  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Carrier testing
  • Result interpretation
  • Specimen Source Identification

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 07D2046796, Expiration date: 2025-04-14
  • CAP, Number: 8699514, Expiration date: 2025-02-13

Licenses

  • CT - Connecticut Department of Public Health DPH, Number: 687, Effective date: 2023-04-01, Expiration date: 2025-03-31
  • NY - New York State Department of Health NYSDOH, Number: 8845, Effective date: 2023-07-01, Expiration date: 2024-07-30

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.