GTR Home > Laboratories > Center for Human Genetics, Inc

Center for Human Genetics, Inc

GTR Lab ID: 1024, Last updated:2016-01-28

Personnel

  • Director: Aubrey Milunsky, MD, DSc, Lab Director
    Phone: 617-492-7083
    Fax: 617-492-7092
    Email: amilunsky@chginc.org
  • Director: Jeff Milunsky, MD, Lab Director
    Phone: 617-492-7083
    Fax: 617-492-7092
    Email: jmilunsky@chginc.org

Conditions and tests

  • 22q13.3 deletion syndrome2 tests
  • 46,XX testicular disorder of sex development2 tests
  • 46,XY sex reversal, type 12 tests
  • 46,XY sex reversal, type 31 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome2 tests
  • Aarskog syndrome1 test
  • Allan-Herndon-Dudley syndrome1 test
  • Angelman syndrome1 test
  • Aortic aneurysm1 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 91 test
  • Aortic valve disease 21 test
  • Aortic valve disorder1 test
  • Ashkenazi Jewish disorders1 test
  • ATR-X syndrome1 test
  • Autism spectrum disorders2 tests
  • Autism, susceptibility to, X-linked 41 test
  • Azorean disease1 test
  • Becker muscular dystrophy1 test
  • Bloom syndrome1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Branchiooculofacial syndrome1 test
  • Breast-ovarian cancer, familial 11 test
  • Breast-ovarian cancer, familial 21 test
  • Bulbo-spinal atrophy X-linked1 test
  • Carcinoma of colon1 test
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardiofaciocutaneous syndrome 12 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • CHARGE association1 test
  • Christianson syndrome1 test
  • Coffin-Lowry syndrome1 test
  • Congenital contractural arachnodactyly2 tests
  • Costello syndrome1 test
  • Creatine deficiency, X-linked1 test
  • Cutaneous malignant melanoma 21 test
  • Cystic fibrosis1 test
  • Deafness, autosomal recessive 1A1 test
  • Deafness, autosomal recessive 1b1 test
  • Deafness, digenic, GJB2/GJB61 test
  • Deafness, nonsyndromic sensorineural, mitochondrial1 test
  • Dentatorubral pallidoluysian atrophy1 test
  • Duchenne muscular dystrophy1 test
  • Early infantile epileptic encephalopathy 21 test
  • Early infantile epileptic encephalopathy 91 test
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
  • Epileptic encephalopathy Lennox-Gastaut type1 test
  • Epileptic encephalopathy, early infantile, 11 test
  • Familial adenomatous polyposis 11 test
  • Familial dysautonomia1 test
  • Familial Mediterranean fever1 test
  • Fanconi anemia, complementation group C1 test
  • FG syndrome2 tests
  • Fragile X syndrome1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis1 test
  • Ganglioside sialidase deficiency1 test
  • Gaucher disease1 test
  • Glycogen storage disease type 1A1 test
  • Hb SS disease1 test
  • Hemochromatosis type 11 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary nonpolyposis colorectal cancer type 81 test
  • Hereditary pancreatitis4 tests
  • Huntington's chorea1 test
  • Intellectual functioning disability1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Kabuki make-up syndrome1 test
  • Kallmann syndrome 11 test
  • Kallmann syndrome 51 test
  • Keratoderma palmoplantar deafness1 test
  • Leber's optic atrophy1 test
  • Legius syndrome1 test
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Levy-Hollister syndrome3 tests
  • Lissencephaly 11 test
  • Lissencephaly 2, X-linked1 test
  • Loeys-Dietz syndrome4 tests
  • Loeys-Dietz syndrome 12 tests
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 32 tests
  • Loeys-Dietz syndrome 41 test
  • Lymphoproliferative syndrome 1, X-linked1 test
  • Lynch syndrome1 test
  • Macrocephaly/autism syndrome1 test
  • Maple syrup urine disease type 1B1 test
  • Marfan syndrome2 tests
  • MECP2 duplication syndrome1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Mental retardation 21, X-linked1 test
  • Mental retardation 30, X-linked1 test
  • Mental retardation 46, X-linked1 test
  • Mental retardation 58, X-linked1 test
  • Mental retardation 63, X-linked1 test
  • Mental retardation 9, X-linked1 test
  • Mental retardation with language impairment and with or without autistic features1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
  • Mental retardation, autosomal dominant 51 test
  • Mental retardation, syndromic, Claes-Jensen type, X-linked1 test
  • Mental retardation, X-linked 721 test
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Mitochondrial diseases1 test
  • Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
  • Mowat-Wilson syndrome1 test
  • MTHFR deficiency, thermolabile type1 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 21 test
  • MYH-associated polyposis1 test
  • Myoclonus with epilepsy with ragged red fibers1 test
  • Neurofibromatosis, type 11 test
  • Neurofibromatosis, type 21 test
  • Neurofibromatosis-Noonan syndrome1 test
  • Noonan syndrome1 test
  • Noonan syndrome 11 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 61 test
  • Noonan-like syndrome with loose anagen hair1 test
  • Opitz-Frias syndrome1 test
  • Osteogenesis imperfecta type 1, mild1 test
  • Osteogenesis imperfecta type 2, thin-bone1 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta, type III/iv1 test
  • Paragangliomas 11 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Partington X-linked mental retardation syndrome1 test
  • Pelizaeus-Merzbacher disease1 test
  • Pendred's syndrome1 test
  • Phenylketonuria1 test
  • Pitt-Hopkins syndrome1 test
  • Pitt-Hopkins-like syndrome 21 test
  • Prader-Willi syndrome1 test
  • Proud Levine Carpenter syndrome1 test
  • PTEN hamartoma tumor syndrome1 test
  • Recurrent pregnancy loss 41 test
  • Renpenning syndrome 11 test
  • Rett syndrome1 test
  • Rett syndrome, congenital variant1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Shprintzen syndrome1 test
  • Sickle cell-hemoglobin C disease1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome2 tests
  • Sotos syndrome 11 test
  • Speech-language disorder 11 test
  • Spermatogenesis arrest1 test
  • Spermatogenic failure, Y-linked 21 test
  • Sphingomyelin/cholesterol lipidosis1 test
  • Spinal muscular atrophy1 test
  • Spinocerebellar ataxia 11 test
  • Spinocerebellar ataxia 101 test
  • Spinocerebellar ataxia 121 test
  • Spinocerebellar ataxia 171 test
  • Spinocerebellar ataxia 21 test
  • Spinocerebellar ataxia 61 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia 81 test
  • Spongy degeneration of central nervous system1 test
  • Stickler syndrome type 12 tests
  • Stickler syndrome, type 22 tests
  • Stickler syndrome, type 32 tests
  • Tay-Sachs disease1 test
  • Thoracic aortic aneurysm and aortic dissection2 tests
  • Thrombophilia1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Turcot syndrome3 tests
  • Type II Collagenopathies1 test
  • Visceral myopathy1 test
  • Visceral neuropathy, familial, autosomal dominant1 test
  • Von Hippel-Lindau syndrome1 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C1 test
  • West syndrome1 test
  • Williams syndrome1 test
  • Wilson's disease1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-Linked Mental Retardation 411 test
  • X-Linked Mental Retardation 881 test
  • X-Linked Mental Retardation 891 test
  • X-Linked mental retardation 901 test
  • Y chromosome-related disorders1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • DNA Banking
  • Genetic counseling
  • Identity Testing
  • Insurance appeals support
  • Insurance billing
  • Insurance preauthorization
  • Insurance preverification
  • Marker Chromosome Identification
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • X-Chromosome Inactivation Studies

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 22D0650242, Expiration date: 2017-02-27

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.