Rapid FISH Analysis - AneuVysion® (+13/+18/+21 /X/Y)

Clinical Use

Use

Rapid FISH Analysis - AneuVysion® assesses postnatal blood samples for numerical abnormalities of chromosomes 13, 18, 21, X, and Y. This test targets aneuploidies including Down syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Triple X syndrome, Klinefelter syndrome, and Jacobs syndrome. A clear understanding of these conditions is crucial for diagnosis, preventive care, and potential therapeutic interventions. Identifying chromosomal abnormalities can considerably influence patient management and further genetic counseling. However, it is essential to note that a normal FISH test result does not eliminate the possibility of mosaicism or other chromosomal abnormalities not covered by the test.

Special Instructions

Submitting samples requires careful adherence to specific collection and shipping protocols to ensure viability. Blood samples should be drawn in a Sodium Heparin (green-top) tube, while skin biopsies must be collected from central locations like the buttock. Specimens must be sent to the laboratory promptly, arriving within stipulated timeframes to maintain integrity. This test does not preclude the need for chromosome analysis or microarray assessment, which should be performed in conjunction for comprehensive evaluation.

Limitations

The FISH assay solely focuses on gains or losses of specific chromosomal regions and cannot determine the entire chromosomal makeup. A normal result on the FISH assay does not rule out the presence of mosaicism, structural rearrangements, or other potential aneuploidies involving chromosomes that are not evaluated in this specific assay. Therefore, comprehensive genetic evaluation may still be warranted. Chromosomal microarray analysis or full chromosome analysis is recommended for any patient who is being assessed for possible aneuploidy and should be performed as a follow-up to the FISH test if necessary.

Test Details