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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

Organic Acidemia Gene Panel Test Report

The maximum days the report can be obtained for the Organic Acidemia Gene Panel test is 14 days.

What are the prerequisites for the test Organic Acidemia Gene Panel

  • Patients must have symptoms or a family history of organic acidemia
  • Patients must have a referral from a healthcare provider
  • Patients must have parental consent if under 18 years of age

What are the measure values for the test Organic Acidemia Gene Panel

Organic Acidemia Gene Panel Test Measures
1. Propionic Acidemia (PCCB gene)
2. Methylmalonic Acidemia (MUT gene)
3. Isovaleric Acidemia (IVD gene)
4. Glutaric Acidemia Type 1 (GCDH gene)

What does this test Organic Acidemia Gene Panel identify?

  • Organic Acidemia Gene Panel identifies mutations in genes associated with various organic acidemias, which are a group of inherited metabolic disorders.
  • These disorders result from deficiencies in enzymes that are involved in the breakdown of amino acids, fatty acids, and carbohydrates.
  • The panel tests for mutations in genes such as ACADVL, ACADM, MUT, and PCCA, among others.
  • Identifying these mutations can help in diagnosing and managing organic acidemias, as well as providing information on the risk of passing on the disorder to future generations.

Why is this test Organic Acidemia Gene Panel taken?

Organic Acidemia Gene Panel Test

The Organic Acidemia Gene Panel test is taken to diagnose and identify genetic mutations that may be causing organic acidemia. Organic acidemia is a group of inherited metabolic disorders where the body is unable to break down certain amino acids and fatty acids properly. This leads to a buildup of organic acids in the blood and tissues, causing a variety of symptoms such as developmental delays, feeding problems, lethargy, and metabolic crises.

The test analyzes specific genes known to be associated with organic acidemia, such as the genes responsible for enzymes involved in amino acid metabolism. By identifying mutations in these genes, healthcare providers can confirm a diagnosis of organic acidemia and provide appropriate treatment and management strategies.

Early detection through genetic testing can help prevent serious complications and improve outcomes for individuals with organic acidemia. The results of the Organic Acidemia Gene Panel test can also help guide healthcare providers in determining the most effective treatment options, such as dietary restrictions and supplementation, to manage the condition.

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