Welcome to IVF
Welcome to IVF
Welcome to IVF
Microdeletion detection by FISH
Prader Willi Syndrome and Angelman Syndrome are two separate clinical conditions caused by a microdeletion on chromosome 15. Microdeletions are often missed by karyotyping, but are easily detected by FISH on cultured lymphocytes. Occasionally, these syndromes may be caused by a mutation or uniparental disomy instead of a deletion. FISH using specific probes can only pick up cases caused by deletions.
FISH_A
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Certain cases of Autism are caused by duplication of the same region on chromosome 15, instead of a deletion.

DiGeorge syndrome is caused by a microdeletion in chromosome 22 and is associated mainly with cardiac defects in children, together with cleft palate and learning problems. Seizures, hypocalcemia and hypoplasia of parathyroid glands is also known to occur (CATCH 22).

Williams syndrome is caused by a microdeletion on chromosome 7. The main clinical features are supravalvular aortic stenosis, elfin face and mental retardation.

We offer the FISH test for these microdeletion syndromes.

Sample: 2-3 ml blood in sodium heparin vaccutainer (green top tube) transported at room temperature.