TREX1 Gene Aicardi-Goutieres syndrome type 1 NGS Genetic DNA Test

TREX1 Gene Aicardi-Goutieres syndrome 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

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TREX1 Gene Aicardi-Goutieres syndrome type 1 NGS Genetic DNA Test Cost 20000 Rs


Test Name TREX1 Gene Aicardi-Goutieres syndrome type 1 NGS Genetic DNA Test
Test type Neurologist
Pre-test Information Clinical History of Patient who is going for TREX1 Gene Aicardi-Goutieres syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TREX1 Gene Aicardi-Goutieres syndrome type 1
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

TREX1 Gene Aicardi-Goutieres syndrome type 1 NGS Genetic DNA Test Details


Short Description

NGS genetic DNA test detecets for variant and mutation detection in TREX1 gene for Aicardi-Goutieres syndrome type 1

Test Specifications

  • Speciality: Neurologist

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for TREX1 Gene Aicardi-Goutieres syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TREX1 Gene Aicardi-Goutieres syndrome type 1

Detail Description

TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Aicardi-Goutieres syndrome (AGS) is a rare genetic disorder that affects the brain, immune system, and skin. It is caused by mutations in several genes, including the TREX1 gene. TREX1 gene mutations are responsible for approximately 25% of all AGS cases. The syndrome is characterized by progressive neurological dysfunction, skin lesions, and elevated levels of interferon in the blood and cerebrospinal fluid.

Symptoms of Aicardi-Goutieres Syndrome Type 1

The symptoms of AGS can vary from person to person, but typically appear within the first year of life. Some common symptoms of Aicardi-Goutieres Syndrome Type 1 include:

  • Encephalopathy - damage or disease that affects the brain
  • Microcephaly - a small head size due to underdeveloped brain
  • Seizures
  • Muscle stiffness and weakness
  • Developmental delay
  • Low muscle tone
  • Abnormal movements
  • Skin rash
  • Enlarged spleen and liver

Diagnosis of Aicardi-Goutieres Syndrome Type 1

Diagnosing Aicardi-Goutieres Syndrome Type 1 can be challenging as the symptoms are similar to other neurological disorders. However, a genetic test is the most reliable way to confirm a diagnosis. A Next-Generation Sequencing (NGS) Genetic DNA Test can be used to identify mutations in the TREX1 gene, which is responsible for Aicardi-Goutieres Syndrome Type 1.

The NGS Genetic DNA Test is a non-invasive test that involves taking a small sample of blood or tissue from the patient. The sample is then analyzed in a laboratory to identify any genetic mutations. The test is highly accurate and can identify mutations in multiple genes simultaneously.

Cost of TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test

The cost of the TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the laboratory where the test is performed.

Conclusion

Aicardi-Goutieres Syndrome Type 1 is a rare genetic disorder that can cause severe neurological and developmental issues. Early diagnosis is important to ensure prompt treatment and management of symptoms. The TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test is a highly accurate and reliable way to diagnose the condition. If you suspect that you or your child may have Aicardi-Goutieres Syndrome Type 1, speak to your doctor about getting a genetic test.

For more information on genetic testing and diagnosis, contact DNA Labs India.

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 TREX1 Gene Aicardi-Goutieres syndrome type 1 NGS Genetic DNA Test

Frequently Asked Questions

  • What is the cost of TREX1 Gene Aicardi-Goutieres syndrome type 1 NGS Genetic DNA Test?

    Cost of TREX1 Gene Aicardi-Goutieres syndrome type 1 NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

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