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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

Maximum Days to Obtain Report for Spinal Muscular Atrophy Microdeletion Test: 14 days

What are the prerequisites for the test Spinal Muscular Atrophy Microdeletion Test

  • Physician's order for the test
  • Consent form signed by the patient or guardian
  • Medical history of the patient
  • Insurance information
  • Any relevant medical records or previous test results

What are the measure values for the test Spinal Muscular Atrophy Microdeletion Test

  • Deletion of SMN1 gene: Present or Absent
  • Deletion of SMN2 gene: Present or Absent
  • Copy number of SMN2 gene: 0, 1, 2, 3, 4, 5, or more

What does this test Spinal Muscular Atrophy Microdeletion Test identify?

This test identifies microdeletions in the SMN1 gene, which is associated with Spinal Muscular Atrophy (SMA). SMA is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. The test helps to determine if a person carries a deletion in the SMN1 gene, which can help in diagnosing SMA and assessing the risk of passing the condition on to future children.

Why is this test Spinal Muscular Atrophy Microdeletion Test taken?

Spinal Muscular Atrophy (SMA) Microdeletion Test is taken to diagnose Spinal Muscular Atrophy, a genetic disorder that affects the motor neurons in the spinal cord and can lead to muscle weakness and atrophy. This test specifically looks for microdeletions in the SMN1 gene, which is responsible for producing a protein essential for the survival of motor neurons.

Individuals with SMA typically have a missing or mutated copy of the SMN1 gene, leading to a deficiency in the production of the SMN protein. The Microdeletion Test helps in identifying these genetic abnormalities and confirming a diagnosis of SMA.

Early detection of SMA through genetic testing can be crucial for initiating appropriate medical management and interventions to improve the quality of life for individuals with this condition.

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