Confirming diagnosis through a targeted approach
FISH test looks at certain parts of the chromosomes and can even detect very small parts of chromosomes that are either missing or extra. A FISH test is usually conducted on a blood sample taken from a vein. For testing during pregnancy, it may also be done on a sample of amniotic fluid or CVS.
Information on Chromosome numbers, Locus specific genes and micro-deletion syndromes such as Down’s Syndrome,
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• Information on Chromosome numbers, Locus specific genes and micro-deletion syndromes such as Down’s Syndrome, Prader-Willi Syndrome, Angelman Syndrome, 22q13 deletion syndrome.
• Alteration of a chromosome leading to transfer from Parent to offspring.
• Defect in a chromosome inhibiting pregnancy or causing miscarriages.
• Birth defects or disability in a newborn.
| FEATURES | KARYOTYPE | FISH/ QF-PCR | CMA |
| Coverage | Whole Genome | Probe Specific | Whole Genome |
| Resolution | 5 Mb | 100 Kb | 100 Kb |
| Live Cells | Required | Not Required | Not required |
| MCC pick up | No | No | Yes |
| Failure Rate | 30-40% due to culture failure/ contamination | No | Very Rare |
| Balanced Translocation | Yes | Yes | No |
| Unbalanced Translocation | Yes | Yes | Yes |
| Gain/Loss | Yes | Yes | Yes |
| Deletion/Duplication | Yes | Yes | Yes |
| Mosaicism | Yes | Yes | Yes |
| Triploidy | Yes | Yes | Yes |
| Additional Information | Yes | No | Yes |
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