Newborn Aneuploidy Detection, FISH, Blood

Clinical Use

Use

The test is intended for screening chromosomal aneuploidies involving chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens. Aneuploidy, a condition involving an abnormal number of chromosomes, is detected rapidly which is particularly useful in urgent newborn evaluations. The limited scope covers the most common aneuploidies associated with significant congenital anomalies. While this test offers a rapid assessment through Fluorescence In Situ Hybridization (FISH), it is often used alongside full chromosomal studies for comprehensive evaluation.

Special Instructions

Not provided.

Limitations

The test does not detect aneuploidies of chromosomes other than 13, 18, 21, X, or Y or structural chromosomal anomalies that do not involve increased presence of these chromosomes. Additionally, mosaicism at low levels may not be detected. A normal FISH result does not eliminate the possibility of cytogenetically detectable abnormalities. Improper specimen collection, use of incorrect anticoagulants, and excessive transport time may affect results.

Test Details

New York Approved