PND FISH Test

FISH(Fluorescent In-Situ Hybridization)

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.

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FISH screens for-

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.

Comparison

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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