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- Familial Cancer testing
- Hereditary Cancer testing
- Inherited Cancer testing
This assay is intended for patients with a family history consistent with an inherited cancer syndrome.
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).
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).
Blood is collected by routine phlebotomy.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis
A Hereditary Cancer Clinical Questionnaire should be submitted with all specimens. Contact CMBP genetic services at 800-345-4363 to coordinate testing.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|481363||VistaSeq Colorectal Cancer||481225||VistaSeq Hered. Cancer Panel||N/A|
|481363||VistaSeq Colorectal Cancer||481364||Specimen Type||31208-2|
|481363||VistaSeq Colorectal Cancer||481365||Preauthorization||N/A|
|481363||VistaSeq Colorectal Cancer||481366||Result Summary||51968-6|
|481363||VistaSeq Colorectal Cancer||481367||Result and Interpretation||69548-6|
|481363||VistaSeq Colorectal Cancer||481368||Recommendations||47042-7|
|481363||VistaSeq Colorectal Cancer||481369||Additional Information||77202-0|
|481363||VistaSeq Colorectal Cancer||481370||Methodology and Limitations||49549-9|
|481363||VistaSeq Colorectal Cancer||481371||References||75608-0|
|481363||VistaSeq Colorectal Cancer||481372||Director Review||72486-4|
|481363||VistaSeq Colorectal Cancer||481373||51969-4|