This assay is intended for patients with a family history consistent with an inherited cancer syndrome.
Test Details
Use
This assay is intended for patients with a family history consistent with an inherited cancer syndrome.
Synonyms
Familial Cancer testing, Hereditary Cancer testing, Inherited Cancer testing
Methodology
The entire coding region of a panel of genes related to hereditary cancer is examined by next generation sequencing analysis. Additionally, portions of the flanking noncoding regions are also examined. Comprehensive deletion/ duplication testing is performed using microarray CGH for 20 genes, and by multiplex ligation-dependent probe amplification (MLPA) for the CHEK2 and PMS2 genes. Genes tested in this panel include APC, ATM, AXIN2, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11 and TP53. Clinically significant findings are confirmed by Sanger sequencing or qPCR. Results are reported using ACMG guidelines and nomenclature recommended by the Human Genome Variation Society (HGVS).
Specimen Requirements
Specimen
Whole blood
Volume
10 mL
Minimum Volume
7 mL
Container
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Collection
Blood is collected by routine phlebotomy.
Special Instructions
A clinical questionnaire should be submitted with all specimens.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis
Storage Instructions
Room temperature
Additional Information
Limitations
This assay is not designed to detect deep intronic variants, balanced translocations, large inversions, mosaicism or complex genomic rearrangements. Homopolymer regions and rare polymorphisms under primer sites can affect the performance of the assay. The presence of pseudogenes can interfere with the ability to detect variants in certain genes. This assay is not intended for use in patients who have received allogeneic bone marrow transplants, as it may not reflect the germline genetic status of these patients.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).