Center for Human Genetics, Inc

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

211 conditions/phenotypes with 199 tests
Enter text to narrow down the list

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 syndrome1 test
Childhood apraxia of speech1 test
Christianson syndrome1 test
Coffin-Lowry syndrome1 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, 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, classic type, 11 test
Ehlers-Danlos syndrome, type 42 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 21 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
Lynch syndrome 81 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
Mismatch repair cancer syndrome 13 tests
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
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
Pregnancy loss, recurrent, 41 test
Primary erythromelalgia1 test
PTEN hamartoma tumor syndrome1 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 syndrome1 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
Type II Collagenopathies1 test
Vas deferens, congenital bilateral aplasia of, X-linked1 test
Velocardiofacial syndrome1 test
Visceral myopathy 11 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 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

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: 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.