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Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The maximum days to obtain a report for the DiGeorge Syndrome Deletion/Duplication Analysis Test is 21 days.

What are the prerequisites for the test DiGeorge Syndrome Deletion/Duplication Analysis Test

  • Patient must have clinical symptoms suggestive of DiGeorge Syndrome
  • Physician referral or prescription for the test
  • Consent form signed by patient or legal guardian

What are the measure values for the test DiGeorge Syndrome Deletion/Duplication Analysis Test

  • Deletion/Duplication detected: Yes/No
  • Deletion size: Measure in base pairs
  • Duplication size: Measure in base pairs

What does this test DiGeorge Syndrome Deletion/Duplication Analysis Test identify?

  • This test identifies deletions or duplications in the chromosome 22q11.2 region, which is associated with DiGeorge Syndrome.
  • It can detect small deletions or duplications that may not be visible through traditional chromosome analysis.
  • Identifying these genetic changes can help diagnose DiGeorge Syndrome and guide treatment and management decisions.

Why is this test DiGeorge Syndrome Deletion/Duplication Analysis Test taken?

The DiGeorge Syndrome Deletion/Duplication Analysis Test is taken to diagnose or confirm the presence of DiGeorge syndrome, also known as 22q11.2 deletion syndrome. This genetic disorder is caused by a small missing piece of chromosome 22, which can result in a variety of symptoms including heart defects, cleft palate, immune system deficiencies, developmental delays, and learning disabilities.

The test is typically recommended for individuals who exhibit characteristics of DiGeorge syndrome, such as facial abnormalities, heart defects, or recurrent infections. It can also be used for individuals with a family history of the disorder or for prenatal testing in cases where there is a known risk of passing on the genetic mutation to a child.

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