Hereditary Cancer Test Menu: Germline and Paired Tumor-Germline

Germline-only Hereditary Cancer Testing Options

Please note the following:

  • Only saliva or blood specimens are accepted for the following germline-only assays. Testing desired on fresh, formalin-fixed paraffin-embedded (FFPE), or cultured tissue (including amniocytes, chorionic villi, and fibroblasts) should be ordered as germline-only via ColoSeqTM Tumor or OncoPlex assays.
  • Turnaround time for all germline-only testing is typically 2 weeks or less from the time testing is initiated. For additional details regarding specimen collection, prior authorization services, and letters of medical necessity, please visit the desired test page of our online test guide.
TEST NAME INDICATION CPT CODE NUMBER OF GENES

BROCA Cancer Risk Panel

(pan-cancer panel)

1) Family or personal history of hereditary breast, ovarian, pancreatic, and/or prostate cancers (HBOPP)

2) Family or personal history of GI cancers or polyposis

1) 81432

2) 81435

67

(see below for list)

Single Gene Analysis

(NOTE: Reflexive orders to a larger panel are not available without additional billing)

Single gene analysis; Targeted analysis of variant(s) identified by an outside lab

If analysis of 5 or more genes is desired, please order a BROCA, BROCA Select, Megalencephaly, OncoPlex, or OncoPlex Select panel.

 Varies, see SGN

1-4

Select from any single gene from the BROCA panel which could include APC, BRCA1, BRCA2, MLH1, etc.

For germline single gene analysis of genes on the OncoPlex or Megalencephaly panels, see Oncoplex Single Gene.
Known Mutation Testing

Targeted analysis of variant(s) identified by BROCA, ColoSeqTM, Megalencephaly, or OncoPlex panels

If analysis of 5 or more genes is desired, please order a BROCA, BROCA Select, Megalencephaly, OncoPlex, or OncoPlex Select panel.

 Varies, see KMU

1-4

Select from: any single gene with variant(s) identified by University of Washington Genetics laboratories such as BROCA, ColoSeqTM, Megalencephaly, exome, or Oncoplex panels.

*BROCA Gene List, 67 genes: ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDK12, CDKN2A, CHEK2, CTNNA1, DICER1, EPCAM, FANCM, FH, FLCN, GEN1, GREM1, HOXB13, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL

Paired Tumor-Germline Hereditary Cancer Testing Options

All paired tumor-germline assays include germline analysis of 91 genes associated with hereditary cancer syndromes. Many patients who have paired tumor-germline testing have already undergone a lot of testing, and these assays are intended to provide conclusive results whenever possible. All exons and flanking intronic sequences are analyzed for all genes. The mismatch repair genes, BRCA1 and BRCA2 include complete promoter and intronic sequencing, and non-coding germline variants of uncertain significance are assessed with RNA analysis when certain criteria are met. ColoSeqTM Tumor resolves unexplained mismatch repair deficiency in more than 90% of patients, and ColoSeqTM Polyposis uncovers the cause of adenomatous polyposis in approximately 30% of all cases, and when more than 100 adenomas are present, a genetic cause is identified in approximately 60% of patients.

ColoSeqTM Tumor, ColoSeqTM Polyposis, and BROCA Tumor assays are not intended to evaluate for somatic mutations for purposes of cancer treatment. Analysis for these tests is limited to select somatic and constitutional mosaic mutations to aid in the diagnosis of genetic and/or hereditary conditions and not all somatic mutations detected are reported.

Note: These assays are appropriate for germline-only analysis of multiple specimen types: peripheral blood, saliva, as well as fresh, formalin-fixed paraffin-embedded (FFPE), or cultured tissue (including amniocytes, chorionic villi, and fibroblasts).

For additional details regarding specimen collection, prior authorization services, and letters of medical necessity, please visit the desired test page of our online test guide.

TEST NAME INDICATION CPT CODE NUMBER OF GENES
ColoSeqTM Tumor Personal history of mismatch repair deficient (dMMR) neoplasm (colorectal, gastric, endometrial, ovarian, prostate, urinary, sebaceous gland, etc.).

This assay is designed to evaluate for unexplained mismatch repair deficiency of a tumor and provide a comprehensive germline assessment.		 81435*

91

(see below for list)
ColoSeqTM Polyposis Personal history of polyposis.

This assay analyzes THREE samples and is designed to evaluate for mosaic and rare polyposis syndromes. Two neoplastic tissues, such as cancer or polyps, are tested with a germline sample.		 81435*

91

(see below for list)
BROCA Paired Tumor Germline Panel Personal history of HBOPP.

Do not order BROCA Tumor for unexplained mismatch repair deficiency, unexplained polyposis, or hereditary GI cancers. Please order a ColoSeqTM Tumor or Polyposis panel instead.

If comprehensive somatic analysis is needed for cancer treatment, order paired tumor-germline testing via the OncoPlex panel + OncoPlex Comparator.		 81432*

91

(see below for list)
ColoSeqTM Single Gene Personal history including, but not limited to, unexplained mismatch repair deficient (dMMR) neoplasm, concern for clonal hematopoiesis (CHIP), or constitutional mosaicism.

Do not order ColoSeqTM Single Gene for the evaluation of unexplained polyposis. Please order the three-sample assay, ColoSeqTM Polyposis.		 Varies, see
CSQTS*

1-4

Select from: MLH1, MSH2, MSH6, PMS2, TP53, or any gene on the ColoSeqTM Tumor or Polyposis panels

Megalencephaly Panel

(Tissue is the preferred specimen type and paired testing may be ordered.)

 Personal history of suspected megalencephaly syndrome, overgrowth, focal cortical dysplasia 81321,
81323,
81479,
81479*

51

(see below for list)

*Note: All tissue testing also is billed with a CPT code for microdissection of tissue (88381).

Paired Panels Gene List, 91 genes: AKT1, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDK12, CDKN1B, CDKN2A, CEBPA, CHEK2, CTNNA1, CTNNB1, DDX41, DICER1, EGFR, EPCAM, ETV6, FANCM, FH, FLCN, GATA2, GEN1, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RINT1, RNF43, RPS20, RSPO3, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, SUFU, STK11, TMEM127, TP53, TSC1, TSC2, VHL, WT1

Megalencephaly Gene List, 51 genes: ABCC9, AKT1, AKT2, AKT3, BRAF, BRWD3, CCND2, CDKN1C, CHD8, CRADD, CSF1R, CTNNB1, DEPDC5, DNMT3A, EED, EZH2, FGFR1, FLT4, GATA2, GLI3, GNA11, GNAQ, GNAS, GPC3, HEPACAM, HRAS, IDH1, IDH2, KCNJ8, KRAS, MAP2K1, MED12, MET, MTOR, NPRL2, NPRL3, , NRAS, NSD1, PDGFRB, PIK3CA, PIK3R2, PTCH1, PTEN, PTPN11, RASA1, SETD2, SMAD4, STRADA, TSC1, TSC2

Search Terms

BROCA, BROCA tumor, BROCOP, ColoSeq, ColoSeq Polyposis, ColoSeq Tumor, CSQP, CSQTP, CSQTS, hereditary cancer, OPG, paired tumor-germline testing

Last updated 2025-01-07T17:33:15.465632+00:00