SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test

SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test

Disease: Neurological Disorders

Method: NGS Technology

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Sample Types
  • Blood or Extracted DNA or One drop Blood on FTA Card o

20,000.00/- Rs ₹28,000.0028% off

  • Results in : 3 to 4 Weeks

Why to get tested at DNA Labs India for SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test ?

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SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test Cost 20000 Rs


Test Name SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test
Test type Neurologist
Pre-test Information Clinical History of Patient who is going for SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SMN1 Gene Spinal muscular atrophy type 1
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test Details


Short Description

NGS genetic DNA test detecets for variant and mutation detection in SMN1 gene for Spinal muscular atrophy type 1

Test Specifications

  • Speciality: Neurologist

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SMN1 Gene Spinal muscular atrophy type 1

Detail Description

Understanding Spinal Muscular Atrophy Type 1 and the Importance of SMN1 Gene NGS Genetic DNA Test

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects the motor neurons in the spinal cord and brainstem. It is caused by a mutation in the SMN1 gene, which produces a protein that is essential for the survival of motor neurons. SMA type 1 is the most severe form of the disease, and it typically appears in infants within the first few months of life.

Symptoms of SMA Type 1

The symptoms of SMA type 1 are usually evident within the first few months of life. Infants with this condition typically have weak muscles, including those responsible for breathing and swallowing. They may also have trouble controlling their head movements and sitting up without support. Other symptoms may include:

  • Difficulty breathing
  • Floppy limbs
  • Weak cry
  • Trouble feeding
  • Difficulty swallowing

Without treatment, SMA type 1 can be life-threatening. Therefore, it is crucial to diagnose the condition as early as possible.

Diagnosing SMA Type 1

Diagnosing SMA type 1 typically involves a combination of physical exams, medical history, and genetic testing. A doctor may also perform a muscle biopsy or electromyography (EMG) to evaluate muscle function and detect any abnormalities.

Importance of SMN1 Gene NGS Genetic DNA Test

The SMN1 gene NGS Genetic DNA Test is a diagnostic tool that can detect mutations in the SMN1 gene. This test is particularly important for infants with a family history of SMA or those who exhibit symptoms of the condition.

The SMN1 gene NGS Genetic DNA Test is a non-invasive procedure that involves taking a sample of blood or saliva from the patient. The sample is then analyzed in a laboratory to detect any abnormalities in the SMN1 gene.

Cost of SMN1 Gene NGS Genetic DNA Test

The cost of the SMN1 Gene NGS Genetic DNA Test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory conducting the test.

Conclusion

Spinal Muscular Atrophy Type 1 is a severe genetic disorder that can be life-threatening if left untreated. Early diagnosis and treatment are crucial for managing the symptoms of the condition and improving the patient's quality of life. The SMN1 Gene NGS Genetic DNA Test is a valuable diagnostic tool that can help detect mutations in the SMN1 gene and aid in the early diagnosis of SMA Type 1. With a cost of approximately INR 20,000, this test is a worthwhile investment for families with a history of SMA or infants exhibiting symptoms of the condition.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test

Frequently Asked Questions

  • What is the cost of SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test?

    Cost of SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

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