pnd-fish-test

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.

Cardiovascular Function
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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Benefits

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