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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 MLPA- Spinal Muscular Atrophy (SMA)- SMN 1&2 Test is 10-14 days.

What are the prerequisites for the test MLPA- Spinal Muscular Atrophy (SMA)- SMN 1&2 Test

  • Sample Type: Whole blood in EDTA anticoagulant (purple top tube)
  • Minimum Volume: 3 mL
  • Storage and Transport: Ship at room temperature
  • Turnaround Time: 10-14 days
  • Preauthorization Required: No

What are the measure values for the test MLPA- Spinal Muscular Atrophy (SMA)- SMN 1&2 Test

  • SMN1 gene copy number: 0-2 copies
  • SMN2 gene copy number: >2 copies
  • SMN1/SMN2 ratio: <0.2 indicative of SMA

What does this test MLPA- Spinal Muscular Atrophy (SMA)- SMN 1&2 Test identify?

MLPA- Spinal Muscular Atrophy (SMA)- SMN 1&2 Test

The MLPA- Spinal Muscular Atrophy (SMA)- SMN 1&2 Test is a genetic test that identifies deletions or duplications 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.

By analyzing the SMN1 gene, this test can determine the number of copies of the gene present in an individual's DNA. A deletion or duplication of the SMN1 gene can help diagnose SMA and provide information about the severity of the condition.

Overall, the MLPA- Spinal Muscular Atrophy (SMA)- SMN 1&2 Test is used to identify genetic mutations associated with SMA and can aid in the diagnosis and management of individuals with this condition.

Why is this test MLPA- Spinal Muscular Atrophy (SMA)- SMN 1&2 Test taken?

Why is this test MLPA- Spinal Muscular Atrophy (SMA)- SMN 1&2 Test taken?

The MLPA (Multiplex Ligation-dependent Probe Amplification) test for Spinal Muscular Atrophy (SMA) is taken to detect any deletions or duplications in the SMN1 and SMN2 genes. SMA is a genetic disorder characterized by the loss of motor neurons in the spinal cord and brainstem, leading to muscle weakness and atrophy. The SMN1 gene is responsible for producing the survival motor neuron (SMN) protein, which is essential for the survival of motor neurons.

Individuals with SMA typically have mutations or deletions in the SMN1 gene, which results in a deficiency of the SMN protein. The MLPA test is used to identify these genetic abnormalities in order to confirm a diagnosis of SMA and to determine the severity of the disease.

Early detection of SMA through genetic testing can help in providing appropriate medical management and interventions to improve the quality of life for individuals affected by this condition. It can also help in providing genetic counseling and guidance to families at risk of having a child with SMA.

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