SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION Test

SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION Test

Disease: Genetic Disorders

Method: MLPA

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Sample Types
  • 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.

14,000.00/- Rs ₹20,000.0030% off

  • Results in : Sample Mon by 11 am; Report Sat

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SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION Test Cost 14000 Rs


Test Name SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION Test
Test type Neurologist
Pre-test Information Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.
Report Delivery Sample Mon by 11 am; Report Sat
Components
Price ₹ 14000
Method MLPA

SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION Test Details


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.

Test Specifications

  • Speciality: Neurologist

  • Components:

  • Department: MOLECULAR DIAGNOSTICS

  • Shipping Stability: Room Temperature: NA, Refrigerator:1 week, Frozen: NA

PreTest Information

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

Detail Description

SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION Test cost INR:14000 symptoms diagnosis

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the muscles responsible for controlling movement. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein essential for the survival of motor neurons.

There are four types of SMA, ranging from type 1 (the most severe and typically fatal in infancy) to type 4 (the mildest and most common adult-onset form).

Symptoms of SMA

The symptoms of SMA vary depending on the type of SMA a person has. However, common symptoms include:

  • Weakness and atrophy of the muscles
  • Difficulty with crawling, walking, or sitting up
  • Trouble breathing and swallowing
  • Abnormal curvature of the spine (scoliosis)
  • Difficulty with speaking

Diagnosis of SMA

Doctors may suspect SMA based on a patient’s symptoms, family history, and physical examination. However, a definitive diagnosis requires a genetic test to detect the SMN1 mutation. This test can be performed on a blood or saliva sample.

SMA Mutation Detection Test Cost

The cost of the SMA mutation detection test in India is around INR 14,000. However, the cost may vary depending on the testing facility and location.

Conclusion

Early diagnosis of SMA is essential to ensure that patients receive appropriate treatment and support. If you or a loved one are experiencing symptoms of SMA, it is important to speak with a healthcare professional and consider genetic testing.

DNA Labs India offers SMA mutation detection testing at an affordable cost. Contact us today to learn more.

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.

Frequently Asked Questions

  • What is the cost of SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION Test?

    Cost of SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION Test is 14000 Rs

  • What Is Spinal Muscular Atrophy (SMA)?

    Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller).

  • Is spinal muscular atrophy inherited?

    SMA types 0, I, II, III, and IV are inherited in an autosomal recessive pattern in families. In autosomal recessive inheritance, a person who has SMA has inherited two altered (mutated) copies of the SMN1 gene from his or her parents.

  • Are there treatments for SMA?

    There is no complete cure for SMA. Treatment consists of managing the symptoms and preventing complications.

  • What causes spinal muscular atrophy?

    People with SMA are either missing part of the SMN1 gene or have a changed (mutated) gene. A healthy SMN1 gene produces SMN protein. Motor neurons need this protein to survive and function properly. 

  • What are the symptoms of SMA?

    The primary symptom of chromosome 5-related (SMN-related) SMA is the weakness of the voluntary muscles. The muscles most affected are those closest to the centre of the body, such as those of the shoulders, hips, thighs, and upper back. 

  • How is SMA diagnosed?

    A blood test is available to look for deletions or mutations of the SMN1 gene. This test identifies at least 95 per cent of SMA Types I, II, and III and may also reveal if a person is a carrier of a defective gene that could be passed on to children.

  • What is the cost of Spinal Muscular Atrophy?

    The cost of Spinal Muscular Atrophy is 14000 Rs

  • How many days does it take for reports?

    Reports take 12-15 working days

₹14,000.00 ₹20,000.0030% off

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