Familial Variant, Targeted Testing

Casandra

Casandra Test Code MC93542Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID FMTTCPT Codes 81403, 81202, 81174, 81215, 81217, 81186, 81221, 81190, 81289, 81248, 81253, 81258, 81362, 81303, 81293, 81296, 81299, 81308, 81326, 81318, 81322, 81337, 81353

Familial Variant, Targeted Testing

Clinical Use

Order Test

Use

Diagnostic or predictive testing for specific conditions when a DNA variant of interest has been previously identified in a family member and follow-up testing for this specific variant in other family members is desired. It is also useful for carrier screening for individuals at risk for having a variant that was previously identified in a family member, segregation analysis for a familial DNA variant, and confirmation of germline status for variants detected via somatic testing.

Special Instructions

A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710. The identification of a specific variant in an affected family member is required before this test can be performed for additional family members. If a familial variant has not been previously identified, call 800-533-1710 to discuss testing options. Testing may be declined at the discretion of the laboratory.

Limitations

Rare allelic variants may be present and could lead to false-negative or false-positive results. This assay does not rule out the presence of other variants within this gene or within other genes that may be associated with the familial condition. Analysis is performed for the familial variants provided only, and does not assess other gene variations. Contact the laboratory with any questions regarding assay performance.

Test Details

New York Approved

Methodology

PCR-based (PCR)

Biomarkers

Mutation (105 genes)

GRHPRPPOXCFTRMLH1MSH2MSH6MECP2MLH3CHEK2IDUAAXIN2BMPR1APTENSMAD4STK11TP53IDSFLCNSPINK1PRSS1CTRCABCD1CDH1NAGLUSGSHARSBGNPTABSEPT9ACADVLACADMACADSFECHMAPTPKHD1GRNFTCDCDKN1CCPOXATP7BGAAHMBSGALTGLABTDHEXAAGXTAPCMLYCDMMACHCGBASMPD1CPT2TTRUBE3AGALCGSNLYZFGAAPOA1APOA2MMADHCSLC25A20ARSANPC1/2_SEQNPC1/2_MLPAPMS2RAI1MUTYHHGSNATGNSGRHPR_MLPAPSAPRETSUMF1CASR_SeqVHL_SEQSDHBSDHCSDHD_SeqBRCA1BRCA2DMD_MLPAMPZ_MLPASERPINA1SDHAF2TMEM127MAXSMN1PMP22G6PDGJB2HBA1HBA2HBBMECP2MLH1MSH2MSH6PALB2PMP22PMS2PTENSMN1TP53CACNA1A

Copy Number Alteration (105 genes)