By Disease

DNA testing services are listed below by gene and by disease. Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements, order codes and CPT codes.

For the current price list, please email us at [email protected] with your name, title and institution. Please review the Logistics, Billing, and Frequently Asked Questions  pages. If you have questions, please contact us. If you are a patient, please see our patient information. Some of our services are described in brochures which are available for download or by mail.

Multiple and complementary tests are available for comprehensive diagnostic testing.

For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.

Complementary Tests (Gene(s) Tested)

Molecular Oncology Testing Services

Comprehensive Panels
 

Mutation and selected copy number analysis of 49 genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, VHL

Analysis of fusions involving 53 genes commonly rearranged in solid tumors: AKT3, ALK, ARHGAP26, AXL, BRAF, BRD3, BRD4, EGFR, ERG, ESR1, ETV1, ETV4, ETV5, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGR, INSR, MAML2, MAST1 MAST2 MET MSMB, MUSK, MYB, NOTCH1, NOTCH2, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PDGFRA, PDGFRB, PIK3CA, PKN1, PPARG, PRKCA, PRKCB, RAF1, RELA, RET, ROS1, RSPO2, RSPO3, TERT, TFE3, TFEB, THADA, TMPRSS2

Comprehensive mutation analysis of genes associated with hematological malignancies: ASXL1, ATM, BCOR, BIRC3, BRAF, BTK, CALR, CARD11, CBL, CBLB, CCND1, CCND3, CD79A, CD79B, CDKN2A, CEBPA, CREBBP, CSF3R, DNMT3A,EP300, ETV6, EZH2, FBXW7, GATA1, GATA2, HRAS, ID3, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KDM6A, KIT, KMT2A, KMT2C, KMT2D, KRAS, MEF2B, MIR142, MPL, MYC, MYD88, NOTCH1, NOTCH2, NPM1, NRAS, PAX5, PDGFRA, PHF6, PIK3CA, PTEN, PTPN11, RUNX1, SETBP1, SF3B1, SPI1, SRSF2, STAG2, SUZ12, TCF3, TET2, TNFAIP3, TP53, U2AF1, UBR5, WHSC1, WHSC1L1, WT1, ZRSR2
 

Targeted hotspot mutation panels
 
Targeted Fusion Assays
 
  • ALK-Fusions (Detection and characterization of fusions involving ALK gene)
  • FGFR3-Fusions (Detection and characterization of fusions involving FGFR3 gene)
  • NTRK1-Fusions (Detection and characterization of fusions involving NTRK1 gene)
  • NTRK3-Fusions (Detection and characterization of fusions involving NTRK3 gene)
  • PPARG-Fusions (Detection and characterization of fusions involving PPARG gene)
  • RET-Fusions (Detection and characterization of fusions involving RET gene)
  • ROS1-Fusions (and characterization of fusions involving ROS1 gene)
     

Other Tumor Genomic Tests
 

Molecular Hematopathology
 
  • ABL1 Mutation Analysis (Targeted analysis of ~19 ABL1 hotspot mutations in the BCR-ABL1 fusion transcript)
  • BCR/ABL1 (t(9;22)) (t(9;22) P190 & P210 (BCR-ABL1 translocation analysis by RT PCR quantitation))
  • CALR (Detection of deletion and insertion mutations in the exon 9 of the calreticulin (CALR) gene)_
  • CEBPA (CEBPA mutation analysis)
  • INV16 (CBFB/MYH11 inversion and translocation qPCR method)
  • IGH/IGK (Immunoglobulin heavy chain and Immunoglobulin kappachain using PCR method)
  • JAK2 (The test targets 5 hotspot mutations (p.V617F (c.1849G>T), p.V617F (c.1848_1849TG>CT), p.D620E, p.C618R, p.L611V) in the exon 14 of the JAK2 gene)
  • MPL (Targeted analysis for 10 cancer hotspot mutations in the exon 10 of the MPL gene by NGS)
  • NPM1 (Targeted analysis for 28 cancer hotspot mutations including the 4-bp insertion in the NPM1 gene by NGS)
  • t(14;18) (IGH-BCL2 translocation analysis by quantitative PCR)
  • t(8;21) (RUNX1-RUNX1T1 translocation analysis by RT-qPCR)
  • t(15;17) (PML-RARA translocation analysis by RT qPCR)
  • TCR-ß and TCR- ϒ (T-cell receptor beta (TCR-ß) and T-cell receptor gamma (TCR- ϒ) gene rearrangement assay by PCR-based detection of clonal TCR-ß and TCR- ϒ)
     
Molecular Microbiology
 
  • CMV (CMV detection (quantitative CMV PCR))
  • EBV (EBV detection (quantitative EBV PCR))
  • ADV (Adenovirus detection (quantitative ADV PCR))
  • BKV (BK virus detection (quantitative BKV PCR))

     

Genetic Testing Services by Disease (Genes Tested)

 

Cancer Predisposition
 
  • Breast Cancer (p53, CHEK2, PALB2, ATM, PTEN, CDH1, STK11)
  • Hereditary Diffuse Gastric Cancer  (CDH1)
  • Polyposis Colorectal Cancer (APC, MUTYH)
  • Hereditary Nonpolyposis Colorectal Cancer (MLH1, MSH2, MSH6, PMS2, EPCAM, HNPCC-COMP, MSI, IHC)
  • Hereditary Mixed Polyposis Syndrome 2 (BMPR1A)
  • Juvenile Polyposis Syndrome (BMPR1A, SMAD4)
  • Juvenile Polyposis Syndrome / Hereditary Hemorrhagic Telangiectasia Syndrome (SMAD4)
  • Leukemias and Lymphomas: T-PLL, B-CLL, Mantle Cell Lymphomas (ATM)
  • Li-Fraumeni Syndrome/Li-Fraumeni-like Syndrome (p53, CHEK2)
  • Pancreatic Cancer (PALB2)
  • Peutz-Jeghers syndrome (STK11)
  • PTEN hamartoma tumor syndrome (PTEN)
  • Prostate Cancer (CHEK2)
     
Coagulopathies
 
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • von Willebrand Disease type 2N Normandy (VWFNa)
  • Venous Thromboembolism (F5)
     
Connective Tissue Disorders
 
  • Marfan Syndrome/MASS/Familial Ectopia Lentis (FBN1)
  • Loeys-Dietz Syndrome (TGFBR1, TGFBR2)
     
Other Hereditary Disorders
 
  • Ataxia Telangiectasia (ATM)
  • Duchenne and Becker Muscular Dystrophy (DMD)
  • LMNA (Lamin A/C) related disorders (LMNA)
  • Rett Syndrome/male infantile encephallitis (MECP2)