Custom Family Sequence Analysis (Familial Mutation/Variant Analysis)

Clinical Use

Use

Custom Family Sequence Analysis is designed to evaluate the presence of known familial sequence variants when specific gene or variant test codes are not accessible. This test specifically targets sequencing of single nucleotide variants (SNVs). It serves various purposes including confirmatory testing for individuals showing clinical signs of familial SNVs, presymptomatic testing for familial variants, and carrier screening to identify potential carriers of familial sequence alterations. A successful analysis requires previous test records of affected family members and ideally samples from the proband to enhance accuracy.

Special Instructions

When ordering, it is important to specify the gene name and identified mutation from the proband on the requisition form. In cases where multiple variants need testing, additional fields should be utilized for recording these details. If testing has previously been performed at another laboratory on the proband, it is necessary to contact Baylor Genetics beforehand. The inclusion of testing records and samples from affected relatives is essential for accurate analysis.

Limitations

The test is dependent on adequate sampling and the availability of a known familial sequence variant for comparison. If a variant hasn't been definitively identified in the family previously, the test may yield inconclusive results. In addition, the test requires precise documentation of both the gene and the specific mutation or variant on the requisition form to ensure correct analysis initiates. It is also limited by the need for timely delivery of the samples, which must reach the lab within 72 hours to ensure sample integrity and reliability of results. The availability of testing records is critical; absence of this information may hinder the assessment process.

Test Details