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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 (SMA) SMN1 Gene Deletion Test is typically within 14-21 days from the date of sample collection.

What are the prerequisites for the test Spinal Muscular Atrophy (SMA) SMN1 Gene Deletion Test

  • Medical history of the patient
  • Family history of spinal muscular atrophy
  • Presence of symptoms such as muscle weakness, poor muscle tone, and respiratory difficulties
  • Previous genetic testing results
  • Consent form signed by the patient or legal guardian

What are the measure values for the test Spinal Muscular Atrophy (SMA) SMN1 Gene Deletion Test

  • Test Name: Spinal Muscular Atrophy (SMA) SMN1 Gene Deletion Test
  • Measure Values:
    • Normal: Presence of both copies of the SMN1 gene
    • Carrier: Presence of one copy of the SMN1 gene
    • Affected: Absence of both copies of the SMN1 gene

What does this test Spinal Muscular Atrophy (SMA) SMN1 Gene Deletion Test identify?

This test identifies the presence of a deletion 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 SMN1 gene is responsible for producing a protein called survival motor neuron (SMN), which is essential for the normal function of motor neurons. Deletion of the SMN1 gene results in reduced levels of the SMN protein, leading to the development of SMA.

Why is this test Spinal Muscular Atrophy (SMA) SMN1 Gene Deletion Test taken?

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. The SMN1 gene is responsible for producing a protein that is essential for the survival of motor neurons. A deletion or mutation in the SMN1 gene can result in a lack of this protein, leading to the symptoms of SMA.

The SMN1 Gene Deletion Test is taken to determine if there is a deletion in the SMN1 gene that could be causing or contributing to the symptoms of SMA. This test can help confirm a diagnosis of SMA and provide information about the type and severity of the disease. It can also be used to identify carriers of the gene mutation, who may be at risk of passing the disorder on to their children.

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