VistaSeq℠ Endocrine Cancer Panel

CPT: 81437; 81438
Updated on 11/6/2018
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Test Details

Synonyms

  • Familial Cancer testing
  • Hereditary Cancer testing
  • Inherited Cancer testing

Use

This assay is intended for patients with a family history consistent with an inherited cancer syndrome.

Limitations

Sequencing cannot detect variants in regions not covered by thisanalysis, including noncoding or deep intronic variants and maynot reliably detect changes in repetitive elements, such asmicrosatellite repeats. Sequencing may not detect mosaic variants,inversions, or other genomic rearrangements such as transposable element insertions. Sequence analysis may also be affected byallele drop-out due to the presence of a rare variant under aprimer site or homopolymeric regions. The method does not allowany conclusion as to whether two heterozygous variants are presenton the same or on different chromosome copies.

Copy number variations are assessed by microarray or multipleligation-probe amplification assay (MLPA) to detect grossdeletions and duplications. Copy number analyses are designed todetect single exon, multi-exon, and full gene deletions orduplications. These analyses may not detect certain genomicrearrangements, such as translocations (balanced or unbalanced),inversions, or some partial exon rearrangements. This assay cannotdetermine exact breakpoints of deletions or duplications detected.

The presence of pseudogenes can interfere with the ability todetect 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 withLynch syndrome, however this assay may not be able to determine ifa deletion/duplication affects PMS2 or PMS2CL.

Each gene sequence is interpreted independently of all other genesequences; however, variants in different genes may interact tocause or modify a typically monogenic disease phenotype.

In addition, the presence of an inherited cancer syndrome due to adifferent genetic cause cannot be ruled out. Any interpretationgiven should be clinically correlated with available informationabout presentation and the patient's relevant family history.

This test is not intended to detect somatic variants. Bone marrowtransplantation 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 characteristicsdetermined, by LabCorp. It has not been cleared or approved by theUS Food and Drug Administration (FDA).

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).

Sequencing cannot detect variants in regions not covered by thisanalysis, including noncoding or deep intronic variants and maynot reliably detect changes in repetitive elements, such asmicrosatellite repeats. Sequencing may not detect mosaic variants,inversions, or other genomic rearrangements such as transposable element insertions. Sequence analysis may also be affected byallele drop-out due to the presence of a rare variant under aprimer site or homopolymeric regions. The method does not allowany conclusion as to whether two heterozygous variants are presenton the same or on different chromosome copies.

Copy number variations are assessed by microarray or multipleligation-probe amplification assay (MLPA) to detect grossdeletions and duplications. Copy number analyses are designed todetect single exon, multi-exon, and full gene deletions orduplications. These analyses may not detect certain genomicrearrangements, such as translocations (balanced or unbalanced),inversions, or some partial exon rearrangements. This assay cannotdetermine exact breakpoints of deletions or duplications detected.

The presence of pseudogenes can interfere with the ability todetect 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 withLynch syndrome, however this assay may not be able to determine ifa deletion/duplication affects PMS2 or PMS2CL.

Each gene sequence is interpreted independently of all other genesequences; however, variants in different genes may interact tocause or modify a typically monogenic disease phenotype.

In addition, the presence of an inherited cancer syndrome due to adifferent genetic cause cannot be ruled out. Any interpretationgiven should be clinically correlated with available informationabout presentation and the patient's relevant family history.

This test is not intended to detect somatic variants. Bone marrowtransplantation 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 characteristicsdetermined, by LabCorp. It has not been cleared or approved by theUS Food and Drug Administration (FDA).

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 and/or by multiplex ligation-dependent probe amplification (MLPA). Genes tested in this panel include CDC73, MAX, MEN1, NF1, PRKAR1A, PTEN, RET, SDHB, SDHC, SDHD, TMEM127, TP53 and VHL. 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).

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 13 genes. Genes tested in this panel include CDC73, MAX, MEN1, NF1, PRKAR1A, PTEN, RET, SDHB, SDHC, SDHD, TMEM127, TP53 and VHL. 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).

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 CDC73, MAX, MEN1, NF1, PRKAR1A, PTEN, RET, SDHB, SDHC, SDHD, TMEM127, TP53 and VHL. 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.

Storage Instructions

Room temperature

Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis

Clinical Information

Special Instructions

A Hereditary Cancer Clinical Questionnaire should be submitted with all specimens. Contact CMBP genetic services at 800-345-4363 to coordinate testing.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
481374 VistaSeq Endocrine Cancer 481375 Specimen Type 31208-2
481374 VistaSeq Endocrine Cancer 481376 Preauthorization N/A
481374 VistaSeq Endocrine Cancer 481377 Result Summary 51968-6
481374 VistaSeq Endocrine Cancer 481378 Result and Interpretation 69548-6
481374 VistaSeq Endocrine Cancer 481379 Recommendations 47042-7
481374 VistaSeq Endocrine Cancer 481380 Additional Information 77202-0
481374 VistaSeq Endocrine Cancer 481381 Methodology and Limitations 49549-9
481374 VistaSeq Endocrine Cancer 481382 References 75608-0
481374 VistaSeq Endocrine Cancer 481383 Director Review 72486-4
481374 VistaSeq Endocrine Cancer 481384 PDF 51969-4

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