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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 Methylmalonic Aciduria Gene Panel test is typically:

5-10 business days

What are the prerequisites for the test Methylmalonic Aciduria Gene Panel

  • Patients must have a suspected diagnosis of Methylmalonic Aciduria
  • A blood sample from the patient is required for genetic testing
  • Consent form signed by the patient or legal guardian
  • Confirmation of insurance coverage or payment arrangements

What are the measure values for the test Methylmalonic Aciduria Gene Panel

  • Methylmalonic Acid, Serum: 0.0 - 0.4 µmol/L
  • Methylmalonic Acid, Urine: < 3.0 mmol/mol creatinine
  • Homocysteine, Plasma: 4.5 - 12.0 µmol/L
  • Homocysteine, Urine: < 2.0 mmol/mol creatinine

What does this test Methylmalonic Aciduria Gene Panel identify?

  • Methylmalonic Aciduria Gene Panel identifies mutations in genes associated with methylmalonic aciduria, a rare genetic disorder that affects the body's ability to break down certain proteins and fats.
  • Specifically, this panel can detect mutations in genes such as MUT, MMAA, MMAB, MMADHC, and others that are known to cause different types of methylmalonic aciduria.
  • Identifying these mutations can help diagnose the specific subtype of methylmalonic aciduria in an individual, guide treatment decisions, and provide information about the risk of passing the condition on to future generations.

Why is this test Methylmalonic Aciduria Gene Panel taken?

The Methylmalonic Aciduria Gene Panel test is taken to diagnose and monitor individuals suspected of having methylmalonic aciduria, a rare genetic disorder characterized by the buildup of methylmalonic acid in the blood and urine. This condition is caused by mutations in genes involved in the breakdown of certain proteins and fats in the body. The gene panel test analyzes specific genes known to be associated with methylmalonic aciduria, helping to identify the underlying genetic cause of the disorder. Results from this test can guide treatment decisions, provide information about disease prognosis, and inform genetic counseling for affected individuals and their families.

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