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GTR Home > Laboratories > Laboratory for Molecular Medicine

Laboratory for Molecular Medicine

GTR Lab ID: 21766, Last updated:2023-12-01

Personnel

  • Director: Sami Amr, PhD, FACMG, Lab Director
    Phone: 617-768-8500
    Fax: 617-768-8513
    Email: samr@partners.org
  • Director: Matthew Lebo, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
    Phone: 617-768-8292
    Fax: 617-768-8513
    Email: mlebo@partners.org
  • Director: Heather Mason-Suares, PhD, Lab Director
    Phone: 617-768-8500
    Fax: 617-768-8513
    Email: hmason-suares@partners.org
  • Director: Hana Zouk, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Associate Director
  • Clinical Testing Assistant, , Laboratory Contact
    Phone: 617-768-8500
    Fax: 617-768-8513
    Email: lmm@partners.org
  • Anna Nagy, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Email: anagy3@bwh.harvard.edu

Conditions and tests

  • 3-Methylglutaconic aciduria type 21 test
  • Alport syndrome1 test
  • Alstrom syndrome1 test
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 test
  • Arrhythmogenic right ventricular dysplasia 101 test
  • Arrhythmogenic right ventricular dysplasia 111 test
  • Arrhythmogenic right ventricular dysplasia 121 test
  • Arrhythmogenic right ventricular dysplasia 21 test
  • Arrhythmogenic right ventricular dysplasia 51 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Atrial fibrillation, familial, 121 test
  • Auditory neuropathy1 test
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 61 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
  • Autosomal recessive nonsyndromic hearing loss 1A1 test
  • Becker muscular dystrophy1 test
  • Branchiootorenal Spectrum Disorders1 test
  • Brown-Vialetto-van Laere syndrome 11 test
  • Brugada syndrome 11 test
  • Cardiomyopathy, familial restrictive, 11 test
  • Cardiomyopathy, familial restrictive, 31 test
  • Catecholaminergic polymorphic ventricular tachycardia 11 test
  • Catecholaminergic polymorphic ventricular tachycardia 21 test
  • Catecholaminergic polymorphic ventricular tachycardia 51 test
  • Centronuclear myopathy1 test
  • CHARGE syndrome1 test
  • Chudley-McCullough syndrome1 test
  • Cone-rod dystrophy and hearing loss1 test
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Danon disease1 test
  • Deafness dystonia syndrome1 test
  • Desmin-related myofibrillar myopathy1 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1AA1 test
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C1 test
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1D1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1NN1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 2B1 test
  • Dilated cardiomyopathy 3B1 test
  • Distal myopathy, Tateyama type1 test
  • Duchenne muscular dystrophy1 test
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
  • Enlarged vestibular aqueduct syndrome1 test
  • Fabry disease1 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial amyloid neuropathy2 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Hereditary disease2 tests
  • Hereditary hearing loss and deafness2 tests
  • Hypertrophic cardiomyopathy1 test
  • Hypertrophic cardiomyopathy 11 test
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 111 test
  • Hypertrophic cardiomyopathy 121 test
  • Hypertrophic cardiomyopathy 131 test
  • Hypertrophic cardiomyopathy 141 test
  • Hypertrophic cardiomyopathy 151 test
  • Hypertrophic cardiomyopathy 161 test
  • Hypertrophic cardiomyopathy 171 test
  • Hypertrophic cardiomyopathy 181 test
  • Hypertrophic cardiomyopathy 21 test
  • Hypertrophic cardiomyopathy 201 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypertrophic cardiomyopathy 31 test
  • Hypertrophic cardiomyopathy 41 test
  • Hypertrophic cardiomyopathy 61 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 91 test
  • Jervell and Lange-Nielsen syndrome1 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 101 test
  • Left ventricular noncompaction 81 test
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • Lethal congenital glycogen storage disease of heart1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Mitochondrial non-syndromic sensorineural hearing loss1 test
  • Mutilating keratoderma1 test
  • MYH7-related skeletal myopathy1 test
  • Myofibrillar myopathy 21 test
  • Myofibrillar myopathy 41 test
  • Myofibrillar myopathy 61 test
  • Myopathy, myofibrillar, 9, with early respiratory failure1 test
  • Myosin storage myopathy1 test
  • Naxos disease1 test
  • Noonan syndrome 11 test
  • Noonan syndrome 51 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Pendred syndrome1 test
  • Perrault syndrome 11 test
  • Perrault syndrome 21 test
  • Perrault syndrome 31 test
  • Perrault syndrome 41 test
  • Primary dilated cardiomyopathy1 test
  • Rippling muscle disease1 test
  • Rippling muscle disease 21 test
  • Tibial muscular dystrophy1 test
  • Usher syndrome1 test
  • Waardenburg syndrome1 test
  • Wolff-Parkinson-White pattern1 test
  • X-linked Emery-Dreifuss muscular dystrophy1 test
  • X-linked mixed hearing loss with perilymphatic gusher1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Result interpretation
  • Whole Exome Sequencing
  • Whole Genome Sequencing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 22D1005307, Expiration date: 2024-07-01

Licenses

  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1200, Effective date: 2019-11-01 Non-expiring
  • NY - New York State Department of Health NYSDOH, Number: PFI: 9666, Effective date: 2023-07-01, Expiration date: 2024-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 33982, Expiration date: 2024-08-15

Participation in external programs

Standardization programs

  • Locus-specific Databases
  • Mutation-specific Databases

Data exchange Programs

  • ICCG (International Collaboration for Clinical Genetics) - Previously ISCA
  • Locus-specific Databases
  • Mutation-specific Databases

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.