Individual patient tumor sequencing is an essential step in choosing the right treatment regimen. It is typically done by sequencing tumor DNA and RNA extracted from a patient's tumor and/or blood. Blood plasma tumor DNA sequencing is a non-invasive way to monitor treatment response (known as a liquid biopsy). This method of sequencing allows doctors to track the progression of a patient's tumor without the need for additional invasive procedures.

ONCOLOGY AND INHERITED DISEASE NGS PANELS

BRCA1/BRCA2 PANEL

Determining the pathogenic germline mutations in BRCA1/2 is critical for cancer patients in selecting the appropriate treatment modalities such as PARP inhibitor treatment. Our assay sequence all the exons including intron-exon junctions for both BRCA1 and BRCA2 using next generation sequencing (NGS).

Genes: BRCA1, BRCA2

Specimen: FFPE, fresh frozen, genomic DNA

Sensitivity: >1% allele frequency

BRCA1, BRCA2, PALB2 NGS PANEL

This panel covers the entire coding sequence of BRCA1 and BRCA2 genes, as well as all coding exons and 5’ and 3’ UTR regions of PALB2.

Genes: BRCA1, BRCA2, PALB2

Specimen: FFPE, fresh frozen, genomic DNA

Sensitivity: >1% allele frequency

CFTR NGS PANEL

CFTR NGS Panel offers a comprehensive approach to investigate disease-relevant mutations and variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The panel covers all exons, including 5’ and 3’ UTRs and regions of interest in introns 1, 12, 22, and 25. It also captures all ACMG‑recommended mutations, as well as offers a standardized solution to identify additional variants. 

Genes: CFTR

Specimen:  FFPE, fresh frozen, genomic DNA

Sensitivity: >1% allele frequency

LYNCH SYNDROME NGS PANEL

This panel identifies mutations in DNA Mismatch Repair (MMR) genes with comprehensive and exon-level hotspot coverage of 4 clinically-relevant genes with a sensitivity of 1% allele frequency to identify both germline and somatic mutations in the same panel.

Genes: MLH1, MSH2, MSH6, PMS2

Specimen: Cell line, whole blood, cfDNA, FFPE

Sensitivity; >1% allele frequency

MYELOID NGS PANEL

Myeloid Panel covers comprehensive and exon-level hotspot coverage of 23 myeloid disease related genes. The panel covers over 12,000 COSMIC and 1,900 ClinVar mutations.

Genes: ASXL1, CALR, CEBPA, CSF3R, DNMT3A, EZH2, FLT3, HRAS, IDH1, IDH2, JAK2, JAK3, KDM6A, KIT, MPL, NPM1, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53 (full coverage), U2AF1

Specimen: Cell line, whole blood, gDNA, FFPE

Sensitivity: >1% allele frequency

COLORECTAL CANCER NGS PANEL

Colorectal Cancer Panel offers comprehensive and exon-level hotspot coverage of 16 clinically relevant colorectal genes. The panel covers over 11,000 COSMIC and 3,500 ClinVar database mutations. In addition, the panel includes full exon coverage of TP53 and enables validated CNV detection in the ERBB2 gene.

Genes: AKT1, APC, BRAF, ERBB2, ERBB4, KIT, KRAS, NOTCH1, NRAS, PDGFRA, PIK3CA, POLE, PTEN, SMAD4, STK11, TP53 (entire coding region)

Specimen: Cell line, whole blood, cfDNA, FFPE

Sensitivity: >1% allele frequency

LUNG CANCER NGS PANEL

Lung NGS Panel offers comprehensive and exon-level hotspot coverage of 17 key genes for studying both small cell lung cancer (SCLC) and non-small lung cancer (NSCLC). The panel covers over 11,000 COSMIC and 2,500 ClinVar mutations.

Genes: AKT1, ALK, ARAF, BRAF, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, KRAS, MAP2K1, MET, NRAS, PIK3CA, PTEN, TP53 (full coding region)

Specimen: Cell line, whole blood, cfDNA, FFPE

Sensitivity: >1% allele frequency

PAN CANCER NGS PANEL

Pan-Cancer Panel offers comprehensive and hotspot coverage of 57 cancer related genes. The panel covers over 16,000 COSMIC and 6,000 ClinVar mutations, as well as 104 exonic and gender markers for sample identification. In addition, the panel includes full exon coverage of TP53.

Genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, FOXL2, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MAP2K1, MET, MLH1, MPL, MSH6, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, TSC1, TSC2, VHL

Specimen:  Cell line, whole blood, cfDNA, FFPE

Sensitivity: >1% allele frequency

HEREDITARY CANCER PANEL

Our Hereditary Cancer Panel covers mutations in 113 genes that are frequently associated with hereditary breast, colon, ovarian, and gastric cancer predispositions. The panel also target 125 associated single nucleotide variants (SNV) associated with cancer risk. 

Genes: ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FAM175A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2   

Specimen: Whole Blood

The panel includes the critical genes that predispose individuals with the following specific cancer types. 

Breast Cancer 

ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, STK11, TP53 

Colon Cancer 

APC, AXIN2, BMPR1A, CHEK2, EPCAM, GREM1, MLH1 MSH2, MSH6, PMS2, MSH3, MUTYH, NTLH1, POLD1, POLE, PTEN, SMAD4, STK11, TP53 

Ovarian Cancer

ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, STK11, TP53 

Gastric Cancer

CDH1 

Other Cancers

MEN1, NF2, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, TSC1/2, VHL, TP53, WT1