ITGA7 Gene Myopathy due to Integrin 7A deficiency NGS Genetic Test
Short Name: ITGA7 Myopathy NGS Test
Also known as: Integrin alpha-7 deficiency, ITGA7-related myopathy
ITGA7 Gene Myopathy due to Integrin 7A deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify genetic mutations in the ITGA7 gene that cause Integrin 7A deficiency, leading to myopathy. It helps in confirming diagnosis, guiding treatment strategies, informing family planning, and enabling genetic counseling for affected families.
- Test Code
- 1749
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Ensure a genetic counseling session is scheduled to discuss the test and its implications. Bring identification and prescription if available.
Method: Venipuncture or finger prick for FTA card
Laboratory Analysis
A blood sample will be collected via venipuncture or a blood drop on an FTA card by a trained phlebotomist. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities. Results will be communicated within 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify genetic mutations in the ITGA7 gene that cause Integrin 7A deficiency, leading to myopathy. It helps in confirming diagnosis, guiding treatment strategies, informing family planning, and enabling genetic counseling for affected families.
How to Prepare
- Fasting is not required for this test
- Wear loose clothing for easy access to the arm during blood draw
- Inform the healthcare provider of any medications or bleeding disorders
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a neurologist, I recommend this test for patients presenting with unexplained muscle weakness, developmental delays, or breathing difficulties to identify genetic causes and guide management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of ITGA7 gene myopathy. Genetic counseling recommended for the patient and family.
No pathogenic variant detected
Reduces likelihood of ITGA7 gene myopathy, but clinical symptoms may suggest other conditions. Further testing may be needed.
Variant of uncertain significance (VUS)
Variant detected but significance unknown. Further testing, family studies, or clinical correlation recommended.
Consult a neurologist or geneticist if you or a family member experience symptoms such as persistent muscle weakness, developmental delays, walking difficulties, or breathing problems. Early consultation is advised for accurate diagnosis and management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions, duplications, or deep intronic variants
- ⚠Requires clinical correlation and genetic counseling for interpretation
- ⚠Test results should be interpreted by a qualified geneticist or healthcare professional
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection or fainting
Interfering Factors
- ●Sample contamination
- ●Degraded DNA due to improper storage
- ●Hemolysis in blood samples
Frequently Asked Questions
What is ITGA7 gene myopathy?
How is ITGA7 gene myopathy inherited?
What are the common symptoms of ITGA7 gene myopathy?
How is the NGS genetic test performed?
What is the cost of the ITGA7 gene myopathy test?
Is home sample collection available for this test?
How long does it take to get results?
What does a positive test result mean?
Can ITGA7 gene myopathy be treated?
Is genetic counseling necessary before testing?
Who should consider this test?
How accurate is the NGS genetic test?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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