Test Details
Methodology
The coding region and flanking splice sites are analyzed by NGS (+/-10bp) and deletion/duplication analysis. Exon-level deletions/duplications are assessed by aCGH or by MLPA. Analysis is limited to deletion/duplication testing for EPCAM. Analysis is expanded for BRCA1/2 flanking splice sites (+/-20bp) and to include promoter deletions for APC (1B and 1A) and promoter sequence variants for PTEN (c.-1300 to c.-750). 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).
Result Turnaround Time
21 - 28 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Test Includes
The following genes are assessed: APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FAM175A, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PRKAR1A, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.
Use
This assay is intended for patients with a family history consistent with an inherited cancer syndrome.
Special Instructions
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form (Informed Consent for VistaSeq®) in Related Documents. A hereditary cancer clinical questionnaire also should be submitted with specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing. To order Oragene Dx 500 saliva collection kits using PeopleSoft No. 87917, contact your local Labcorp branch supply department.
Limitations
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 Food and Drug Administration.
References
Specimen Requirements
Specimen
Whole blood or saliva collected in an Oragene Dx collection kit
Volume
10 mL whole blood, 2 mL saliva
Minimum Volume
7 mL whole blood, 0.5 mL saliva
Container
Lavender-top (EDTA) tube or yellow-top (ACD) tube or Oragene Dx 500 saliva collection kit
Collection Instructions
Blood is collected by routine phlebotomy. Saliva is collected by spitting into the provided container until it reaches the fill line.
Stability Requirements
Temperature | Period |
---|---|
Room temperature | 60 days |
Refrigerated | 60 days |
Storage Instructions
Room temperature
Causes for Rejection
Frozen specimen; leaking tube; clotted specimen; quantity not sufficient for analysis; grossly hemolyzed specimen; incorrect anticoagulant; saliva collection in an incorrect container. Do not eat, drink, smoke, or chew gum 30 minutes prior to saliva sample collection. See Oragene Dx 500 saliva kit for detailed instructions.
LOINC® Map
Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
---|---|---|---|---|---|---|
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481239 | Specimen Type | 31208-2 | |
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481226 | Preauthorization | N/A | |
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481244 | Result Summary | 51968-6 | |
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481247 | Result and Interpretation | 69548-6 | |
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481248 | Recommendations | 47042-7 | |
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481249 | Additional Information | 77202-0 | |
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481250 | Methodology and Limitations | 49549-9 | |
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481251 | References | 75608-0 | |
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481252 | Director Review | 72486-4 | |
481220 | VistaSeq Hered. Cancer Panel | 73977-1 | 481253 | 51969-4 | ||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481239 | |||||
Result Code Name | Specimen Type | |||||
UofM | ||||||
Result LOINC | 31208-2 | |||||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481226 | |||||
Result Code Name | Preauthorization | |||||
UofM | ||||||
Result LOINC | N/A | |||||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481244 | |||||
Result Code Name | Result Summary | |||||
UofM | ||||||
Result LOINC | 51968-6 | |||||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481247 | |||||
Result Code Name | Result and Interpretation | |||||
UofM | ||||||
Result LOINC | 69548-6 | |||||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481248 | |||||
Result Code Name | Recommendations | |||||
UofM | ||||||
Result LOINC | 47042-7 | |||||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481249 | |||||
Result Code Name | Additional Information | |||||
UofM | ||||||
Result LOINC | 77202-0 | |||||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481250 | |||||
Result Code Name | Methodology and Limitations | |||||
UofM | ||||||
Result LOINC | 49549-9 | |||||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481251 | |||||
Result Code Name | References | |||||
UofM | ||||||
Result LOINC | 75608-0 | |||||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481252 | |||||
Result Code Name | Director Review | |||||
UofM | ||||||
Result LOINC | 72486-4 | |||||
Order Code | 481220 | |||||
Order Code Name | VistaSeq Hered. Cancer Panel | |||||
Order Loinc | 73977-1 | |||||
Result Code | 481253 | |||||
Result Code Name | ||||||
UofM | ||||||
Result LOINC | 51969-4 |