FISH Analysis - Custom Familial FISH Studies

Casandra

Casandra Test Code BA51553Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 8405CPT Codes 88230, 88271, 88272, 88291

FISH Analysis - Custom Familial FISH Studies

Clinical Use

Use

FISH Analysis - Custom Familial FISH Studies is designed to assess a known familial copy number variant(s) in individuals. It is specifically relevant when Baylor Genetics has previously identified a copy number variant in the proband or original patient through chromosome microarray analysis (CMA) or whole-exome sequencing (WES). This test serves as confirmation for clinical diagnosis and is also useful for presymptomatic testing of family members for variants already recognized by Baylor Genetics. It is crucial to highlight that this assay focuses only on gains or losses that have been established in prior CMA results, and does not delve into partner chromosomes involved in potential rearrangements.

Special Instructions

Samples should only be sent after confirming that the relevant copy number variant has been identified at Baylor Genetics; if this was not done, please reach out before sending the sample. Proper specimen collection and handling are crucial, including shipping at room temperature and ensuring timely delivery to the laboratory within 48 hours.

Limitations

This FISH assay is restricted to detecting gains or losses identified in previous CMA results and does not include information on partner chromosomes related to rearrangements. It is important to understand that this test is only utilized after confirmation of the copy number variant in prior tests, making pre-existing knowledge of genomic alterations essential for its use. The performance of this test is thus limited to previously identified variants and does not offer diagnostic coverage for all chromosomal changes that may exist within the individual.

Test Details