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VistaSeq® RET Comprehensive Analysis

CPT 81406; 81479
Synonyms
  • Familial Cancer testing
  • Hereditary Cancer testing
  • Inherited Cancer testing
  • Medullary Thyroid Cancer (MTC)
  • MEN2
  • Multiple Endocrine Neoplasia, type 2
  • Parathyroid
  • Pheochromocytoma

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. 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

20 - 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.

Related Documents

Use

This assay is intended for patients with a history consistent with Multiple Endocrine Neoplasia, type 2.

Genes included: RET

Special Instructions

A hereditary cancer clinical questionnaire should be submitted with all specimens. Contact CMBP genetic 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 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

Eng C. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [Updated 2019 Aug 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Accessed at www.ncbi.nlm.nih.gov/books/NBK1257/.
National Comprehensive Cancer Network. NCCN Neuroendocrine and Adrenal Tumors guidelines. Accessed at www.nccn.org.

Specimen Requirements

Specimen

Whole blood or saliva collected in an Oragene Dx collection kit

Volume

10 mL whole blood, 2.0 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

Frozen

N/A

Storage Instructions

Room temperature or refrigerated

Causes for Rejection

Frozen specimen; leaking tube; clotted specimen; grossly or hemolyzed specimen; quantity not sufficient for analysis; 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
483472 VistaSeq RET Comprehensive 21734-9 483473 Specimen Type 31208-2
483472 VistaSeq RET Comprehensive 21734-9 483474 Preauthorization N/A
483472 VistaSeq RET Comprehensive 21734-9 483475 Result Summary 21734-9
483472 VistaSeq RET Comprehensive 21734-9 483476 Result and Interpretation 56850-1
483472 VistaSeq RET Comprehensive 21734-9 483477 Recommendations 62385-0
483472 VistaSeq RET Comprehensive 21734-9 483478 Additional Information 42349-1
483472 VistaSeq RET Comprehensive 21734-9 483479 Methodology and Limitations 49549-9
483472 VistaSeq RET Comprehensive 21734-9 483480 References 75608-0
483472 VistaSeq RET Comprehensive 21734-9 483481 Director Review 72486-4
483472 VistaSeq RET Comprehensive 21734-9 483482 IMAGE 11502-2
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483473
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483474
Result Code NamePreauthorization
UofM
Result LOINCN/A
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483475
Result Code NameResult Summary
UofM
Result LOINC21734-9
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483476
Result Code NameResult and Interpretation
UofM
Result LOINC56850-1
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483477
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483478
Result Code NameAdditional Information
UofM
Result LOINC42349-1
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483479
Result Code NameMethodology and Limitations
UofM
Result LOINC49549-9
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483480
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483481
Result Code NameDirector Review
UofM
Result LOINC72486-4
Order Code483472
Order Code NameVistaSeq RET Comprehensive
Order Loinc21734-9
Result Code483482
Result Code NameIMAGE
UofM
Result LOINC11502-2