Clinical Molecular Genetics Laboratory Sites

Please click on one of the sites in the list below to view more information.

Brigham and Women's Hospital Center for Advanced Molecular Diagnostics

Location: Brigham and Women's Hospital, Boston, MA
Director: Neal Lindeman, MD
Staff: 7 pathologists, 1 clinical supervisor, 5 technologists, administrative team
Test Offerings:
Diagnosis of B-cell lymphoma (IgH - clonality)
Diagnosis of T-cell lymphoma (TCR - clonality)
Molecular monitoring of chronic myelogenous leukemia – quantitative RT-PCR for BCR-ABL
Diagnosis/ monitoring of acute promyelocytic leukemia – qualitative RT-PCR for PML-RARA
Diagnosis of follicular lymphoma – PCR for BCL2-JH rearrangements
Factor V Leiden
Prothrombin G20210A
Diagnosis of myeloproliferative disorders - JAK2 V617F point mutation
Screening for cystic fibrosis carriers (expanded ACOG/ACMG panel; Tag-It 40+4)
Microsatellite instability testing as screen for HNPCC (Lynch Syndrome)
MGMT promotor methylation status in glioblastoma multiforme for therapeutic options
EGFR mutation analysis in lung carcinoma (in concert with LMM)
KRAS codon 12 and 13 genotyping (therapeutic options in colorectal carcinoma)
BRAF V600E (thyroid and colorectal carcinoma; melanoma)

PCR, RT-PCR, DNA sequencing/ fragment length analysis by capillary gel electrophoresis, Taq-man real-time PCR, Luminex genotyping, Pyrosequencing, Lightscanner Hi-Res melt curve analysis, Third Wave Technology Invader, Southern blot, tissue microdissection, DNA methylation (chemical (bisulfite) modification/PCR).

Children's Hospital Boston DNA Diagnostic Laboratory

Location: Children's Hospital Boston, Boston, MA
Website: NA
Director: Bai-Lin Wu, PhD, MBBS
Assistant Directors: David T. Miller, M.D., Ph.D. (responsible for fellow/resident training), Yiping Shen, Ph.D.
Staff: 3 molecular geneticists, lab manager, 6 technicians
Test Offerings:
Chromosomal Microarray Analysis
Deletion/duplication analysis for multiple microdeletion syndromes
Achondroplasia/Hypochondroplas (FGFR3)
Albinism Type 1 (OCA1)
Albinism Type 2 (OCA2)
AS/PWS syndrome
Cell Culture
Congenital Fibrosis of Extraocular Muscles (KIF21A)
Connexin 26 (GJB2)
Connexin 30 (GJB6)
DNA Extraction hold or send
Doublecortin (DCX)
Factor V Leiden
Fragile X syndrome
Gilbert Syndrome/Hyperbilirubinemia Type I (UGT1A)
Mitochondrial 12sRNA
Mitochondrial MELAS
Mitochondrial MERRF
Mitochondrial tRNA-Leu
Mitochondrial tRNA-Lys
Mitochondrial tRNA-Serl
Myotonic Dystrophy Type 1
Pendrin (SLC26A4)
Periventricular Nodular Heterotopia (FLNA)
Prothrombin 20210 Factor II
Rett Syndrome (MECP2)
Sequencing For Specific Mutation
Smith-Lemli-Opitz (DHCR7)
Spinal Muscular Atrophy Type 1
Thrombophilia, Thermolabile Variant (MTHFR)
Uniparental Disomy (UPD)
Y Sequence PCR Detection

DNA Sequencing, Genotyping, MLPA, Oligonucleotide Microarray, Southern blot/Methylation analysis

Correlagen Diagnostics, Inc.

Location: Waltham, MA


Director: Natalia Leach, Ph.D.

Test Offerings:

ASD with AV Block
Early-Onset Coronary Heart Disease
Marfan Syndrome
Pulmonic Stenosis (Noonane Syndrome)
Thoracic Aortic Aneurysms
Congenital Heart Disease
Noonan Syndrome
Hyper IgM Syndrome
IFNGR Deficiency
Wiskott-Aldrich Syndrome
Hyper IgE Syndrome
Retinal Degeneration (Bardet-Biedl Syndrome)
Retinal Hemangioblastomas (von Hippel-Lindau Disease)

Integrated Genetics Molecular Diagnostic Laboratory

Location: Integrated Genetics, 3400 Computer Drive, Westborough, MA
Director: Ruth Heim, Ph.D. Director of Clinical Molecular Genetics (Director responsible for training programs)
Staff: 9 ABMG-certified Clinical Molecular Geneticists (1 Site Director, 1 Director of Clinical Molecular Genetic Directors, 7 Molecular Laboratory Directors), 8 ABGC-certified Genetic Counselors; 7 NCA-certified (CLSpMB) laboratory managers and supervisors; many CLSpMB technologists
Test Offerings:
Ashkenazi Jewish genetic panel - mutation analysis for Bloom Syndrome, Canavan Disease, Familial Dysautonomia, Fanconi Anemia Type C, Gaucher Disease, Glycogen Storage Disease 1a, Maple Syrup Urine Disease, Mucolipidosis Type IV, Niemann-Pick Type A Disease, Tay-Sachs Disease
Cystic Fibrosis – CFTR 97 panel; CFTR full sequencing
Fabry Disease - GLA full gene sequencing
Fragile X
Factor II (prothrombin G20210)
Factor V Leiden
Maternal Cell Contamination studies
Pompe Disease - GAA full gene sequencing
Prader-Willi/Angelman Syndrome (Methylation Analysis)
Rhc/RhE and RhD genotyping
Sickle Cell Anemia
Spinal Muscular Atrophy carrier testing
Y chromosome microdeletion analysis
Zygosity analysis

RT Q BCR/ABL analysis for CML molecular monitoring
ABL kinase domain mutation analysis for therapy-resistant CML
IgVH mutation analysis for CLL
P53 mutation analysis for CLL

EGFR mutation analysis for drug response in lung cancer
KRAS mutation analysis drug response in lung and colorrectal cancer

PCR; RT-PCR; primer extension; DNA sequencing and genotyping by fluorescent capillary electrophoresis; Luminex genotyping; qualitative and quantitative real time PCR; ASO hybridization; Southern blot; DNA methylation analysis

Laboratory for Molecular Medicine at Partners Personalized Medicine, Satellite Lab of MGH

Location: Partners Research Building, Cambridge, MA
Director: Scott Weiss, M.D.
Staff: 3 ABMG-certified geneticists, lab manager, 5 technicians, 3 genetic counselors, lab coordinator, office manager, additional affiliated support staff
Test Offerings:
Hypertrophic cardiomyopathy (MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC, PRKAG2, LAMP2, GLA)
Dilated Cardiomyopathy (MYH7, MYBPC3, TNNT2, TNNI3, TPM1, ACTC, LMNA, PLN, LDB3, TAZ)
Danon Disease (LAMP2)
Noonan syndrome (PTPN11, SOS1, KRAS)
Costello Syndrome (HRAS)
CFC Syndrome (BRAF, KRAS)
Marfan and Loeys-Dietz Syndromes (FBN1, TGFBR1, TGFBR2)
Fabry Disease (GLA)
Transthyretin Amyloidosis (TTR)
Cystic Fibrosis (CFTR Full Gene Sequencing)
Hearing loss (Cx26/GJB2, GJB6 Deletion, MTTS1, MTNR1, COCH, PDS, POU3F4, OTOF)
Pendred syndrome (PDS/SLC26A4)
Usher syndrome (MYO7A, USH2A, CLRN1, R245X in PCDH15)
Familial Adenomatous Polyposis (APC sequencing and MLPA deletion/duplication analysis)
Hereditary Non-Polyposis Colorectal Cancer (MLH1, MSH2, MSH6 sequencing and MLPA)
Li-Fraumeni Syndrome (TP53)
Von Hippel-Lindau VHL sequencing and MLPA deletion/duplication analysis)
EGFR analysis for lung cancer drug response
Warfarin Metabolism Panel (CYP2C9, VKORC1)

DNA Sequencing, Genotyping, Identity analysis, MLPA

MGH Diagnostic Molecular Pathology Laboratory

Location: Massachusetts General Hospital, Boston, MA
Director: A. John Iafrate, MD
Methylation assay:


MSI-type of assay:

Alveolar Rhabdomyosarcoma
Myxoid Liposarcoma
Synovial Sarcoma

SNaPshot targeted mutational analysis (58 multiplexed assays - I am very familiar with this one):

Sizing assay:
EGFR exon 19 deletions

MGH Neurogenetics DNA Diagnostic Laboratory

Location: Massachusetts General Hospital, Boston, MA
Director: Katherine B. Sims, MD, Director
Winnie Xin, Ph.D., Co-Director
Staff: neurogeneticist, 2 geneticists, 4 technicians, lab coordinator
Test Offerings:
Chromosome 1p/19q allele loss (anaplastic oligodendroglioma markers)
Dopa Responsive Dystonia (DRD; GTP cyclohydrolase)
Dystonia (DYT1)
Myoclonus-Dystonia (SGCE)
Rapid Onset Dystonia Parkinsonism (ATP1A3)- Known Mutation Testing Only
Parkinson, Park8 (LRRK2), autosomal dominant
Parkinson, Park2 (Parkin), autosomal recessive
Familial Amyotrophic Lateral Sclerosis (FALS; SOD1 mutation)
Familial Amyotrophic Lateral Sclerosis 8 (ALS8)
Hereditary Sensory Neuropathy (HSN1, SPTLC1)
Hereditary Sensory and Autonomic Neuropathy (HSN2, HSAN)
Huntington disease (HD)
Hyperkalemic Periodic Paralysis (HYPP, SCN4A)
Hypokalemic Periodic Paralysis (HOPP, CACNL1A3)
Hypokalemic Periodic Paralysis Type 2 (HOPP-2, SCN4A)
Neurofibromatosis type 2 (NF2) [mutation screening; linkage; deletion/duplication analysis by MLPA]
Neuronal Ceroid Lipofuscinoisis (NCL - Types 1, 2, 3, 5, 6 and 8)
Norrie disease (ND)
Paternity & Identity Test
Tuberous Sclerosis (TSC1 and TSC2) - Known Mutation Testing Only

DNA Sequencing, Genotyping, SSCP, dHPLC, MLPA, Identity