FISH for DiGeorge Syndrome Test Cost & Procedure

This test is used to identify the lack of genes that cause many illnesses, including Velocardiofacial syndrome and DiGeorge syndrome.

DiGeorge Syndrome: What is it?

A chromosomal condition called DiGeorge syndrome commonly affects the 22nd chromosome. Poor body system development can result in various medical issues, such as behavioural issues, a cleft palate, and heart defects.

Another name for the disorder is 22q11.2 deletion syndrome. A minor deletion at q11.2 on the 22nd chromosome is present in about 90% of those with the disease.

The 22q11.2 deletion syndrome now encompasses several previously identified syntaxes caused by this deletion.

Symptoms:

• Delays in learning to walk or talk, as well as other developmental and academic disabilities, are symptoms.
• issues with hearing and vision
• eating and oral problems
• low height, recurring illnesses
• muscle, spine, or bone issues
• Unusual facial characteristics include an undeveloped chin, ears that are low to the head, and wide-set eyes.
• a cleft palate or other issues with the palate

The aorta is most likely to be impacted by heart issues.

Uses:

• When there is clinical suspicion of 22q11.2 deletion syndrome, this test uses fluorescence in situ hybridisation(FISH) technology to detect microdeletions in the chromosome 22q11.2 area.
• DiGeorge syndrome (DGS) and velocardiofacial syndrome are two disorders with chromite 22q11.2 deletions as contributing factors (VCFS). Conventional or high-resolution chromosomal analyses are unable to identify the 22q11.2 deletion syndrome (karyotyping)
• Congenital heart disease (64%), palate deformities (67%), particularly cleft palate, learning difficulties (70%-90%), immune deficiency (77%), hypocalcemia (50%), gastrointestinal anomalies, renal anomalies (16%), skeletal abnormalities, and ocular abnormalities are standard clinical features linked to 22q11.2 deletion syndrome.
• Most cases with a clinical suspicion of 22q11.2 deletion syndrome are given the FISH DGS/VCFS test. Moreover, prenatal samples like chorionic villus samples and amniotic fluid specimens can be used for this FISH test.