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GTR Home > Laboratories > Center for Human Genetics, Inc

Center for Human Genetics, Inc

GTR Lab ID: 1024, Last updated:2021-11-30

Personnel

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

Conditions and tests

  • 46,XX testicular disorder of sex development2 tests
  • 46,XY sex reversal 12 tests
  • 46,XY sex reversal 31 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome2 tests
  • Aarskog syndrome1 test
  • Allan-Herndon-Dudley syndrome1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Aneurysm-osteoarthritis syndrome2 tests
  • 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 11 test
  • Aortic valve disease 21 test
  • Ashkenazi Jewish disorders1 test
  • Autism spectrum disorder2 tests
  • Autism, susceptibility to, X-linked 41 test
  • Autosomal recessive nonsyndromic hearing loss 1A1 test
  • Autosomal recessive nonsyndromic hearing loss 1B1 test
  • Autosomal recessive nonsyndromic hearing loss 41 test
  • Azoospermia1 test
  • Azorean disease1 test
  • Becker muscular dystrophy1 test
  • Bloom syndrome1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Branchiooculofacial syndrome1 test
  • Breast and/or ovarian cancer1 test
  • Breast-ovarian cancer, familial, susceptibility to, 11 test
  • Breast-ovarian cancer, familial, susceptibility to, 21 test
  • Carcinoma of colon1 test
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardiofaciocutaneous syndrome 12 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • CHARGE association1 test
  • Childhood apraxia of speech1 test
  • Christianson syndrome1 test
  • Coffin-Lowry syndrome1 test
  • Colorectal cancer, hereditary nonpolyposis, type 81 test
  • Congenital contractural arachnodactyly2 tests
  • Corpus callosum agenesis-abnormal genitalia syndrome1 test
  • Costello syndrome1 test
  • Creatine transporter deficiency1 test
  • Cystic fibrosis1 test
  • Deafness, digenic, GJB2/GJB61 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 21 test
  • Developmental and epileptic encephalopathy, 91 test
  • Duchenne muscular dystrophy1 test
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Familial adenomatous polyposis 11 test
  • Familial dysautonomia1 test
  • Familial Mediterranean fever1 test
  • Familial thoracic aortic aneurysm and aortic dissection2 tests
  • Fanconi anemia complementation group C1 test
  • Fanconi anemia complementation group N1 test
  • FG syndrome 12 tests
  • Fragile X syndrome1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Gaucher disease1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
  • Hb SS disease1 test
  • Hemochromatosis type 11 test
  • Hereditary breast ovarian cancer syndrome1 test
  • Hereditary cancer-predisposing syndrome1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary pancreatitis6 tests
  • Huntington disease1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Intellectual disability1 test
  • Intellectual disability, autosomal dominant 51 test
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked 301 test
  • Intellectual disability, X-linked 411 test
  • Intellectual disability, X-linked 461 test
  • Intellectual disability, X-linked 581 test
  • Intellectual disability, X-linked 631 test
  • Intellectual disability, X-linked 721 test
  • Intellectual disability, X-linked 881 test
  • Intellectual disability, X-linked 891 test
  • Intellectual disability, X-linked 91 test
  • Intellectual disability, X-linked 901 test
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Kabuki syndrome 11 test
  • Kennedy disease1 test
  • Leber optic atrophy1 test
  • Legius syndrome1 test
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Levy-Hollister syndrome3 tests
  • Loeys-Dietz syndrome4 tests
  • Loeys-Dietz syndrome 12 tests
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 41 test
  • Lynch syndrome1 test
  • Macrocephaly and epileptic encephalopathy1 test
  • Macrocephaly-autism syndrome1 test
  • Maple syrup urine disease type 1B1 test
  • Marfan syndrome2 tests
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • MERRF syndrome1 test
  • Microdeletion / Duplication Syndromes, Absence of Heterozygosity, Aneuploidy1 test
  • Mitochondrial disease1 test
  • Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
  • Mitochondrial non-syndromic sensorineural hearing loss1 test
  • Mondini defect1 test
  • Mowat-Wilson syndrome1 test
  • MTHFR THERMOLABILE POLYMORPHISM1 test
  • Mucolipidosis type IV1 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 21 test
  • MUTYH-related attenuated familial adenomatous polyposis1 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 syndrome-like disorder with loose anagen hair 11 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
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Paragangliomas 11 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paroxysmal extreme pain disorder1 test
  • Partington syndrome1 test
  • Pelizaeus-Merzbacher disease1 test
  • Pendred syndrome1 test
  • Phelan-McDermid syndrome2 tests
  • Phenylketonuria1 test
  • Pitt-Hopkins syndrome1 test
  • Pitt-Hopkins-like syndrome 21 test
  • Prader-Willi syndrome1 test
  • Primary erythromelalgia1 test
  • PTEN hamartoma tumor syndrome1 test
  • Recurrent pregnancy loss 41 test
  • Renpenning syndrome1 test
  • Rett syndrome1 test
  • Rett syndrome, congenital variant1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Sickle cell-hemoglobin C disease1 test
  • Small fiber neuropathy1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome2 tests
  • Sotos syndrome 11 test
  • Spermatogenic failure 42 tests
  • Spermatogenic failure, Y-linked, 21 test
  • Sphingomyelin/cholesterol lipidosis1 test
  • Spinal muscular atrophy1 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia type 81 test
  • Spongy degeneration of central nervous system1 test
  • Stickler syndrome type 12 tests
  • Stickler syndrome type 22 tests
  • Syndromic X-linked intellectual disability Claes-Jensen type1 test
  • Syndromic X-linked intellectual disability Hedera type1 test
  • Syndromic X-linked intellectual disability Lubs type1 test
  • Tay-Sachs disease1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to thrombin defect1 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Turcot syndrome3 tests
  • Type II Collagenopathies1 test
  • Vas deferens, congenital bilateral aplasia of, X-linked1 test
  • Velocardiofacial syndrome1 test
  • Visceral myopathy1 test
  • Visceral neuropathy, familial, 3, 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 disease1 test
  • X-linked epilepsy-learning disabilities-behavior disorders syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
  • X-linked lissencephaly with abnormal genitalia1 test
  • X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
  • X-linked Opitz G/BBB syndrome1 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: 2023-02-27
  • CAP, Number: 1142904, Expiration date: 2023-09-09

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS-00800499, Expiration date: 2022-07-06
  • MA - Executive Office of Health and Human Services EOHHS, Number: 5587, Expiration date: 2023-01-06
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1182, Effective date: 2021-01-13 Non-expiring
  • NY - New York State Department of Health NYSDOH, Number: 4306, Expiration date: 2022-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 28424A, Expiration date: 2022-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO01001, Expiration date: 2021-12-30

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.