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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 the report can be obtained for the test Brown Vialetto Van Laere Syndrome Gene Panel is typically 10-14 business days from the receipt of the sample at the testing facility.

What are the prerequisites for the test Brown Vialetto Van Laere Syndrome Gene Panel

  • Confirmation of clinical diagnosis of Brown Vialetto Van Laere Syndrome
  • Patients must have a suspected or confirmed pathogenic variant in the SLC52A2 or SLC52A3 genes
  • Patients must have a referral from a qualified healthcare provider
  • Patients must provide informed consent for genetic testing

What are the measure values for the test Brown Vialetto Van Laere Syndrome Gene Panel

  • SLC19A3 Gene Analysis
  • Sanger Sequencing
  • Deletion/Duplication Analysis
  • Next Generation Sequencing (NGS)

What does this test Brown Vialetto Van Laere Syndrome Gene Panel identify?

  • The Brown Vialetto Van Laere Syndrome Gene Panel identifies mutations in genes associated with Brown-Vialetto-Van Laere syndrome.
  • This syndrome is a rare genetic disorder characterized by progressive neurological deterioration, hearing loss, and respiratory insufficiency.
  • Genes included in the panel may vary but commonly include SLC52A2 and SLC52A3, which encode riboflavin transporters.
  • Identifying mutations in these genes can help confirm a diagnosis of Brown-Vialetto-Van Laere syndrome and guide treatment options.

Why is this test Brown Vialetto Van Laere Syndrome Gene Panel taken?

The Brown Vialetto Van Laere Syndrome Gene Panel test is taken to diagnose Brown Vialetto Van Laere Syndrome (BVVL), a rare neurological disorder characterized by progressive hearing loss and weakness of the facial and shoulder muscles. The test helps identify mutations in specific genes that are known to be associated with BVVL, such as SLC52A2 and SLC52A3. Early detection of these mutations can aid in proper management and treatment of the syndrome.

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