Please login to order a test.
- 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.
Sequencing cannot detect variants in regions not covered by this analysis, including noncoding or deep intronic variants and may not reliably detect changes in repetitive elements, such as microsatellite repeats. Sequencing may not detect mosaic variants, inversions, or other genomic rearrangements such as transposable element insertions. Sequence analysis may also be affected by allele drop-out due to the presence of a rare variant under a primer site or homopolymeric regions. The method does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
Copy number variations are assessed by microarray or multiple-ligation-probe amplification assay (MLPA) to detect gross deletions and duplications. Copy number analyses are designed to detect single exon, multi-exon, and full gene deletions or duplications. These analyses may not detect certain genomic rearrangements, such as translocations (balanced or unbalanced), inversions, or some partial exon rearrangements. This assay cannot determine exact breakpoints of deletions or duplications detected.
The presence of pseudogenes can interfere with the ability to detect variants in certain genes. For example, deletion/duplication analysis of PMS2 exons 11-15, among others, is complicated by the highly homologous PMS2CL pseudogene. Deletions/duplications in PMS2CL have not been associated with Lynch syndrome, however this assay may not be able to determine if a deletion/duplication affects PMS2 or PMS2CL.
Each gene sequence is interpreted independently of all other gene sequences; however, variants in different genes may interact to cause or modify a typically monogenic disease phenotype.
In addition, the presence of an inherited cancer syndrome due to a different genetic cause cannot be ruled out. Any interpretation given should be clinically correlated with available information about presentation and the patient's relevant family history.
This test is not intended to detect somatic variants. Bone marrow transplantation may affect the outcome of these results. Please contact LabCorp at 1-800-345-GENE to discuss testing options.
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 and/or by multiplex ligation-dependent probe amplification (MLPA). Genes tested in this panel include ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2,EPCAM, FAM175A, FANCC, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, 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).
Lavender-top (EDTA) tube or yellow-top (ACD) tube
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|
|481341||VistaSeq Breast and GYN Cancer||481342||Specimen Type||31208-2|
|481341||VistaSeq Breast and GYN Cancer||481343||Preauthorization||N/A|
|481341||VistaSeq Breast and GYN Cancer||481344||Result Summary||51968-6|
|481341||VistaSeq Breast and GYN Cancer||481345||Result and Interpretation||69548-6|
|481341||VistaSeq Breast and GYN Cancer||481346||Recommendations||47042-7|
|481341||VistaSeq Breast and GYN Cancer||481347||Additional Information||77202-0|
|481341||VistaSeq Breast and GYN Cancer||481348||Methodology and Limitations||49549-9|
|481341||VistaSeq Breast and GYN Cancer||481349||References||75608-0|
|481341||VistaSeq Breast and GYN Cancer||481350||Director Review||72486-4|
|481341||VistaSeq Breast and GYN Cancer||481351||51969-4|