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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 Spinal Muscular Atrophy Gene Panel is 21 days.

What are the prerequisites for the test Spinal Muscular Atrophy Gene Panel

  • Confirmation of clinical diagnosis of Spinal Muscular Atrophy (SMA)
  • Family history of SMA or known carrier status
  • Referral from a healthcare provider

What are the measure values for the test Spinal Muscular Atrophy Gene Panel

  • SMN1 gene deletion/duplication: Normal (2 copies), Heterozygous deletion (1 copy), Homozygous deletion (0 copies), Heterozygous duplication (3 copies), Homozygous duplication (4 copies)
  • SMN1 gene sequence analysis: Normal (no mutations detected), Heterozygous pathogenic variant detected, Homozygous pathogenic variant detected
  • SMN2 gene copy number analysis: Normal (2 copies), Increased copy number (more than 2 copies)
  • Other genes in panel: Results may vary, please refer to individual gene test for specific measure values

What does this test Spinal Muscular Atrophy Gene Panel identify?

  • Spinal Muscular Atrophy Gene Panel identifies mutations in the following genes:
    • SMN1: This gene is responsible for producing the survival motor neuron protein, which is essential for the survival of motor neurons. Mutations in this gene can lead to spinal muscular atrophy.
    • SMN2: SMN2 is a nearly identical gene to SMN1, but it produces less functional protein. Variations in the number of copies of SMN2 can influence the severity of spinal muscular atrophy.
    • Other associated genes: The panel may also include other genes known to be associated with spinal muscular atrophy, such as NAIP, GTF2H2, and BICD2.

Why is this test Spinal Muscular Atrophy Gene Panel taken?

Spinal Muscular Atrophy (SMA) Gene Panel Test is taken to diagnose and assess the risk of spinal muscular atrophy, a genetic disorder that affects the motor nerve cells in the spinal cord, leading to muscle weakness and atrophy.

This test specifically looks for mutations in the SMN1 gene, which is responsible for producing a protein essential for the survival of motor neurons. Mutations in this gene can result in a deficiency of the SMN protein, leading to the development of SMA.

Early detection of SMA through genetic testing can help in providing appropriate medical management and treatment options, as well as in making informed decisions about family planning and reproductive choices.

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