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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 for obtaining the report for the DiGeorge Syndrome Test By FISH is typically 14-21 days. However, the exact turnaround time may vary depending on the laboratory and other factors.

What are the prerequisites for the test DiGeorge Syndrome Test By FISH

  • Patients must have clinical features suggestive of DiGeorge Syndrome, such as heart defects, cleft palate, and immune system problems
  • Patients must have a family history of DiGeorge Syndrome or a suspected genetic mutation
  • Patients must have a blood sample or tissue sample available for testing
  • Patients must have a physician's order for the test

What are the measure values for the test DiGeorge Syndrome Test By FISH

  • Sensitivity: 95%
  • Specificity: 98%
  • Positive Predictive Value: 90%
  • Negative Predictive Value: 99%

What does this test DiGeorge Syndrome Test By FISH identify?

This test identifies DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, using Fluorescence In Situ Hybridization (FISH) technology. FISH is a molecular cytogenetic technique that uses fluorescent probes to bind to specific DNA sequences on chromosomes, allowing for the visualization of chromosomal abnormalities.

DiGeorge Syndrome is characterized by a deletion of a small piece of chromosome 22, resulting in a variety of physical and developmental symptoms. These can include congenital heart defects, cleft palate, immune system deficiencies, and developmental delays.

The FISH test can detect the presence of this specific chromosomal deletion, helping to confirm a diagnosis of DiGeorge Syndrome in individuals exhibiting symptoms of the disorder.

Why is this test DiGeorge Syndrome Test By FISH taken?

Why is the DiGeorge Syndrome Test By FISH taken?

DiGeorge Syndrome is a genetic disorder caused by a deletion of a small piece of chromosome 22. This deletion can result in a variety of symptoms including heart defects, cleft palate, immune system deficiencies, and developmental delays.

The Fluorescence In Situ Hybridization (FISH) test is taken to diagnose DiGeorge Syndrome by identifying the deletion on chromosome 22. FISH is a molecular cytogenetic technique that uses fluorescent probes to bind to specific regions of the chromosome, allowing for visualization under a microscope. This test is considered to be highly accurate and can provide a definitive diagnosis for individuals suspected of having DiGeorge Syndrome.

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