Genesys Diagnostics

Personnel

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

Conditions and tests

389 conditions/phenotypes with 26 tests
Enter text to narrow down the list

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
Angiokeratoma corporis diffusum3 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
Café-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
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
Galactose intolerance1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gastric adenocarcinoma and proximal polyposis of the stomach4 tests
Gastrointestinal stroma 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 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-Torré syndrome6 tests
Multiple cutaneous leiomyomas4 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

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., 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.