- Aneuploidy FISH is used to detect approximately 99% of +13, +18, +21, and aneuploidies of X & Y. This test is not designed to detect structural chromosome abnormalities and inconclusive results may occur if mosaicism is present.
- RAPID Aneuploidy FISH will be performed when samples are received on newborns 3 months of age or younger, enabling results to be available within 24-48 hours of specimen receipt.
- Constitutional (Targeted) FISH is used to analyze a particular region of interest within a single chromosome. Alternate testing may be appropriate, as many of the microdeletions/microduplication conditions detected by targeted FISH are also identified using the High Density SNP Microarray.
Test details and complementary testing
- Postnatal Chromosome Analysis for confirmation and clarification of trisomy, translocation, or mosaicism of 13, 18, 21 or sex chromosome differences is required in conjunction with Rapid Aneuploidy FISH.
- Postnatal Chromosome Analysis is recommended in conjunction with any Constitutional (Targeted) FISH.
- If single gene testing is considered for a familial genetic condition or abnormal ultrasound findings, contact a laboratory genetic counselor for coordination of testing prior to sending the sample.