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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 the report can be obtained for the test Myotonia Congenita Gene Panel is typically 14-21 days from the date of sample receipt.

What are the prerequisites for the test Myotonia Congenita Gene Panel

  • Patients with symptoms suggestive of myotonia congenita
  • Patients with a family history of myotonia congenita
  • Patients with a known pathogenic variant in the SCN4A gene
  • Patients with suspected sodium channelopathy

What are the measure values for the test Myotonia Congenita Gene Panel

  • CLCN1 Gene Analysis - Normal/Pathogenic
  • SLC9A3R1 Gene Analysis - Normal/Pathogenic
  • CACNA1S Gene Analysis - Normal/Pathogenic
  • SCN4A Gene Analysis - Normal/Pathogenic

What does this test Myotonia Congenita Gene Panel identify?

  • This test identifies mutations in specific genes associated with Myotonia Congenita, a rare genetic disorder characterized by muscle stiffness and difficulty relaxing muscles after contraction.
  • The panel includes analysis of genes such as CLCN1, SCN4A, and others that are known to be involved in the regulation of muscle contraction and relaxation.
  • Identifying mutations in these genes can help confirm a diagnosis of Myotonia Congenita and guide treatment and management decisions.
  • Results from this test can also provide important information for family members who may be at risk for inheriting the condition.

Why is this test Myotonia Congenita Gene Panel taken?

The Myotonia Congenita Gene Panel test is taken to identify genetic mutations associated with Myotonia Congenita, a rare genetic disorder characterized by muscle stiffness and delayed relaxation after voluntary contraction. This test helps in confirming a diagnosis, predicting disease progression, and guiding treatment decisions. It also aids in determining the risk of passing on the condition to future generations and in genetic counseling.

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