Familial Targeted Sequencing

Casandra

Casandra Test Code AR04278Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3005867CPT Code 81403

Familial Targeted Sequencing

Also known as: FAM NGS

Clinical Use

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Use

This test is used for the analysis of a previously identified familial sequence variant by sequencing the gene of interest. It is designed to help determine if a specific gene variant, known to exist in a family, is present in the individual being tested. It provides valuable information for genetic consultations and helps in the diagnosis of genetic conditions associated with the familial variant.

Special Instructions

A copy of the family member's test result documenting the familial gene variant is required. Consultation with a genetic counselor is advised to determine if the variant of interest is detectable with this assay. Testing will not proceed if the requested variant or gene is not covered. This test is not available for New York state clients as it is not New York state approved.

Limitations

The test evaluates only the specified familial variant(s) of interest and other incidentally detected pathogenic or likely pathogenic variants related to the condition of interest within the targeted gene(s) region(s). A negative result does not exclude all genetic diagnoses. Deletions/duplications/insertions of any size may not be detected. Regulatory region variants, deep intronic variants, and large deletions/duplications will not be identified. Diagnostic errors can occur due to rare sequence variations. The test is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA (mtDNA) mutations, aneuploidies, or repeat expansions.

Test Details