Brigham and Women’s Hospital Center for Advanced Molecular Diagnostics
Location: Brigham and Women’s Hospital, Boston, MA
Website: http://www.brighamandwomens.org/pathology/services/MD/Molecular_Diag.aspx
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)
Platforms
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)
- DMD/BMD
- 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
Platforms
DNA Sequencing, Genotyping, MLPA, Oligonucleotide Microarray, Southern blot/Methylation analysis
Correlagen Diagnostics, Inc.
Location: Waltham, MA
Website: http://www.correlagen.com/index
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
- (APS1/APECED)
- 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
Website: www.genzymegenetics.com
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
- MTHFR
- 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
Platforms
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
Website: http://www.partners.org/personalizedmedicine/lmm
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)
Platforms
DNA Sequencing, Genotyping, Identity analysis, MLPA
MGH Diagnostic Molecular Pathology Laboratory
Location: Massachusetts General Hospital, Boston, MA
Website: http://www.massgeneral.org/pathology/research/researchlab.aspx
Director: A. John Iafrate, MD
TESTS/PLATFORMS
Methylation assay:
MGMT
Sequencing:
KRAS
BRAF
JAK2
MSI-type of assay:
FLT3
NPM1
MSI
FISH:
Alveolar Rhabdomyosarcoma
Ewings
Myxoid Liposarcoma
Synovial Sarcoma
1P19Q
ALK
EGFR
SNaPshot targeted mutational analysis (58 multiplexed assays – I am very familiar with this one):
APC/BRAF/CTNNB1/EGFR/FLT3/JAK2/KIT/KRAS/NOTCH1/NRAS/PIK3CA/PTEN/TP53
Sizing assay:
EGFR exon 19 deletions
MGH Neurogenetics DNA Diagnostic Laboratory
Location: Massachusetts General Hospital, Boston, MA
Website: http://www.dnalab.org
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
Platforms
DNA Sequencing, Genotyping, SSCP, dHPLC, MLPA, Identity