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Parameters

Reports Within:

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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 the report for the Metachromatic Leukodystrophy Gene Panel test is 14 days.

What are the prerequisites for the test Metachromatic Leukodystrophy Gene Panel

  • Metachromatic Leukodystrophy Gene Panel test requisition form
  • Complete and signed patient consent form
  • Recent clinical notes or medical records
  • Family history information
  • Payment information or insurance details

What are the measure values for the test Metachromatic Leukodystrophy Gene Panel

Gene Measure Value
ARSA Gene sequencing
PSAP Gene sequencing
MLD Gene sequencing

What does this test Metachromatic Leukodystrophy Gene Panel identify?

  • Metachromatic Leukodystrophy Gene Panel identifies mutations in genes associated with Metachromatic Leukodystrophy (MLD).
  • MLD is a rare genetic disorder that affects the nervous system, leading to the breakdown of myelin, a substance that insulates and protects nerve cells.
  • The panel tests for mutations in genes such as ARSA, PSAP, and SUMF1, which are known to be associated with MLD.
  • Identifying mutations in these genes can help in diagnosing MLD and determining the appropriate treatment and management for affected individuals.

Why is this test Metachromatic Leukodystrophy Gene Panel taken?

Metachromatic Leukodystrophy Gene Panel Test is taken to diagnose and confirm Metachromatic Leukodystrophy (MLD), which is a rare genetic disorder that affects the nervous system. This test helps in identifying mutations in the ARSA gene, which is responsible for producing an enzyme called arylsulfatase A. Deficiency of this enzyme leads to the accumulation of sulfatides in the brain and nervous system, causing damage to the myelin sheath.

Early detection of MLD through this gene panel test can help in appropriate treatment and management of the condition. It is usually recommended for individuals who have symptoms of MLD or have a family history of the disorder. The test involves analyzing the ARSA gene for mutations that are known to cause MLD, and can provide a definitive diagnosis of the condition.

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