FISH Analysis - DiGeorge/Velocardiofacial Syndrome Type I (22q)

Casandra

Casandra Test Code BA36511Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 8486CPT Codes 88230, 88271, 88273, 88291

FISH Analysis - DiGeorge/Velocardiofacial Syndrome Type I (22q)

Clinical Use

Use

FISH Analysis for DiGeorge/Velocardiofacial Syndrome Type I is designed to identify 22q11 chromosomal deletions associated with DiGeorge Syndrome, a complex genetic disorder. This syndrome often presents with diverse symptoms such as cardiac defects, developmental delays, and immunodeficiency, with a high prevalence of a de novo deletion in most cases. The test is critical in diagnosing patients with either clinical or suspected diagnoses of DiGeorge Syndrome, including those with specific cardiac anomalies. Given the implications for family members, this analysis serves an essential role in understanding familial risk and inheritance patterns.

Special Instructions

Testing is indicated for patients with either a clinical or suspected diagnosis of DiGeorge Syndrome, particularly those exhibiting conotruncal cardiac anomalies. Parents of affected individuals may also be tested to determine the presence of the 22q11.2 deletion. The recommended collection method involves drawing blood in a Sodium Heparin tube, shipping it at room temperature to ensure integrity, and compliance with timing for laboratory arrival.

Limitations

This FISH assay can only indicate gains or losses of the analyzed gene and does not rule out other structural rearrangements. A normal result does not exclude the possibility of DiGeorge Syndrome or its associated conditions, and further Chromosomal Microarray testing should be pursued if there's clinical suspicion. The assay is limited to detecting the specific deletion associated with 22q11.2, so unseen alterations may remain undetected.

Test Details

FDA Approved