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).

Boston Children’s Hospital Boston DNA Diagnostic Laboratory

Location: Boston Children’s Hospital, Boston, MA
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

  • HCM
  • DCM
  • ASD with AV Block
  • ARVD/C
  • Early-Onset Coronary Heart Disease
  • Marfan Syndrome
  • Pulmonic Stenosis (Noonane Syndrome)
  • Loeys-Dietz
  • Cardiomyopathy
  • Thoracic Aortic Aneurysms
  • Arrhythmia
  • Congenital Heart Disease
  • Noonan Syndrome
  • Aortopathy
  • Agammaglobulinemia
  • CGD
  • CVID
  • HED-ID
  • Hyper IgM Syndrome
  • IFNGR Deficiency
  • SCID
  • Wiskott-Aldrich Syndrome
  • XLP
  • Hyper IgE Syndrome
  • FHH
  • MODY2
  • 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)
  • LEOPARD Syndrome (PTPN11, 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