CHRNA1 Gene Multiple pterygium syndrome lethal type NGS Genetic Test
Short Name: CHRNA1 MPS Lethal Type NGS Test
Also known as: Multiple pterygium syndrome, lethal type, CHRNA1-related disorder, Lethal multiple pterygium syndrome
CHRNA1 Gene Multiple pterygium syndrome lethal type 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 the CHRNA1 Gene NGS Genetic Test is to detect pathogenic mutations in the CHRNA1 gene for the diagnosis of Multiple Pterygium Syndrome Lethal Type, aiding in clinical management, genetic counseling, and informed decision-making for affected families.
- Test Code
- 5057
- 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 specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm or a drop of blood collected on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CHRNA1 Gene NGS Genetic Test is to detect pathogenic mutations in the CHRNA1 gene for the diagnosis of Multiple Pterygium Syndrome Lethal Type, aiding in clinical management, genetic counseling, and informed decision-making for affected families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing is crucial for diagnosis and management of rare syndromes like Multiple Pterygium Syndrome Lethal Type, enabling informed family planning and supportive care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Multiple Pterygium Syndrome Lethal Type. Genetic counseling and management planning recommended.
Negative for pathogenic variant
No mutations detected in the CHRNA1 gene. Consider other genetic or clinical causes if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a geneticist or specialist if test results are positive, if there is a family history of the condition, or if symptoms suggestive of Multiple Pterygium Syndrome are present.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Results require interpretation by a qualified geneticist
- ⚠Does not rule out other genetic conditions
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample storage or handling
Frequently Asked Questions
What is Multiple Pterygium Syndrome Lethal Type?
What causes this condition?
What are the common symptoms?
How is it diagnosed?
What does the NGS Genetic Test involve?
How much does the test cost?
Is home sample collection available?
How long does it take to get results?
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Is the test covered by insurance?
Can this test be used for prenatal diagnosis?
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Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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