FISH-22q Deletion or LSI DiGeorge/ VCFS Test Cost & Procedure

FISH-22q deletion or LSI Di George/

Several illnesses, including Velocardiofacial Syndrome (VCS) and DiGeorge syndrome (DGS), have been linked to deletions in the 22q11.2 gene (VCFS).

LSI DiGeorge Syndrome: What Is It?

Delsmalla's little portion of chromosome 22 results in disorder known as 22q11.2 deletion syndrome, also known by several other names, some of which are given here. The deletion is located at q11.2, a region of the chromosome close to the centre.

Many probable indications and symptoms of 22q11.2 deletion syndrome can impact practically any body component.

Causes:

Heart defects frequently apparent from birth, recurring infections brought on by immune system issues, and unusual facial traits are all typical in people with 22q11.2 deletion syndrome.

Submucosal cleft palate is a disorder where the muscles that make up the roof of the mouth (palate) may not completely close, despite the tissue covering them doing so.

The soft tissue flap that extends from the back of the mouth may be split, and the aberrant palate is frequently excessively arched (bifid uvula).

Methods:

• A dual-colour FISH examination of 10 metaphase cells and 20 interphases was carried out on metaphase cells using a probe for the TUPLE1 locus in chromosome 22q11.2 and a chromosome 22 control probe.
• Use in cases where patients are suspected of having Deletion 22q, DiGeorge, or Velocardiofacial syndrome based on clinical findings like congenital heart disease (especially conotruncal malformations), palatal abnormalities (especially velopharyngeal insufficiency), hypocalcemia, immune deficiency, developmental delay, or distinctive facial features.