Short Description

SMA of all types is associated with homozygous mutations in the survival motor neuron 1 gene (SMN1). This test detects homozygous deletion of SMN1 Exon 7 and or Exon 8 which accounts for 95% of SMA. It detects both active and carrier status of the disease.

PreTest Information

Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.

Detail Description

SPINAL MUSCULAR ATROPHY (SMA) CARRIER DETECTION Test Cost INR:14000 Symptoms Diagnosis

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects the motor neurons in the spinal cord. It is a progressive disease that leads to muscle weakness and atrophy, making it difficult for individuals with SMA to move, breathe, and swallow. SMA is an autosomal recessive disorder, which means that both parents must carry a mutated gene for their child to develop the condition. SMA carrier detection test can help determine whether an individual is a carrier for the disease.

Symptoms of Spinal Muscular Atrophy (SMA)

There are different types of SMA, each with varying degrees of severity. However, some common symptoms of SMA include:

• Muscle weakness and atrophy
• Poor muscle tone
• Tremors or shaking
• Difficulty breathing and swallowing
• Delayed motor milestones
• Joint contractures

SMA can be diagnosed through genetic testing, clinical examination, and electromyography (EMG) studies. Early diagnosis and intervention can improve the quality of life for individuals with SMA.

SMA Carrier Detection Test

The SMA carrier detection test is a genetic test that can identify whether an individual carries a mutated gene that causes SMA. The test is performed by analyzing a blood or saliva sample for the SMN1 gene mutation. The SMN1 gene provides instructions for producing a protein that is essential for the survival of motor neurons. Individuals with a mutation in the SMN1 gene do not produce enough of this protein, leading to the degeneration of motor neurons and the development of SMA.

Cost of SMA Carrier Detection Test in India

The cost of the SMA carrier detection test in India is approximately INR 14000. The price may vary depending on the laboratory and the location of the test.

Conclusion

The SMA carrier detection test can help individuals determine whether they carry a mutated gene that can cause SMA. Early diagnosis and intervention can improve the quality of life for individuals with SMA. If you are concerned about your risk of SMA or have a family history of the condition, talk to your healthcare provider about getting tested.

SMA of all types is associated with homozygous mutations in the survival motor neuron 1 gene (SMN1). This test detects homozygous deletion of SMN1 Exon 7 and or Exon 8 which accounts for 95% of SMA. It detects both active and carrier status of the disease.