FISH Analysis - Chromosome X and Y Centromere Analysis

Clinical Use

Use

FISH Analysis - Chromosome X and Y Centromere is a test specifically designed to detect common sex chromosome aneuploidies through Fluorescence In Situ Hybridization (FISH). Recognizing these aneuploidies is essential as they are often linked to various syndromes. The importance of the test is emphasized by conditions like Turner syndrome resulting from a 45,X karyotype, which highlights potential health concerns. Testing is recommended for individuals showing signs of suspected sex chromosome aneuploidy, aiding in understanding familial patterns and prognostications regarding the condition.

Special Instructions

This test should be utilized alongside Chromosomal Microarray - High Resolution (test code 8655) or Chromosome Analysis - Postnatal (test code 8600) to ensure a thorough assessment. Samples must be shipped at room temperature and should arrive at the laboratory within 48 hours of collection. If using Lithium Heparin, it is permitted but preference is given to Sodium Heparin tubes for optimal results.

Limitations

The FISH assay's primary function is to detect aneuploidy on the analyzed chromosomes. A normal result from this test does not exclude the presence of structural rearrangements. Thus, results should always be viewed in conjunction with relevant clinical and pathological findings. Variability in symptoms associated with sex chromosome aneuploidies may arise, especially in cases with mosaicism, and hence the test results should not be used as a standalone diagnostic tool.

Test Details