GFPT1 Gene Myasthenia congenital with tubular aggregates 1 NGS Genetic Test
Short Name: GFPT1 NGS Genetic Test
Also known as: GFPT1 Gene Myasthenia Congenital NGS Test, MCTA1 Genetic Test
GFPT1 Gene Myasthenia congenital with tubular aggregates 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, Saliva or one drop blood on FTA card samples. Results in Reports are typically delivered within 3 to 4 weeks after the sample is received by the laboratory.. 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 confirm the diagnosis of Myasthenia Congenital with Tubular Aggregates 1 (MCTA1) by detecting mutations in the GFPT1 gene using Next-Generation Sequencing (NGS) technology.
- Test Code
- 4369
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, Saliva or one drop blood on FTA card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient must be provided. A genetic counselling session to draw a pedigree chart of family members affected with MCTA1 is recommended. No special preparation such as fasting is required.
Method: Venipuncture, saliva collection or FTA card blood spot
Laboratory Analysis
A blood sample is collected by venipuncture, a saliva sample is collected in a sterile tube, or a few drops of blood are placed on an FTA card.
Report Delivery
No specific post-test precautions are required. Reports will be available within 3 to 4 weeks.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm the diagnosis of Myasthenia Congenital with Tubular Aggregates 1 (MCTA1) by detecting mutations in the GFPT1 gene using Next-Generation Sequencing (NGS) technology.
How to Prepare
- Blood sample via venipuncture or FTA card blood spot
- Saliva sample in a sterile collection tube
- Genetic counselling session is recommended before the test
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of MCTA1 helps in appropriate treatment planning and family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Clotted blood sample
- Hemolyzed sample
- Incorrectly labelled sample
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant was detected in the GFPT1 gene, confirming the diagnosis of MCTA1.
Negative
No pathogenic variants were detected in the GFPT1 gene. Other genetic causes may still be considered.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unclear. Additional analysis or family studies may be recommended.
Consult a neurologist if you experience muscle weakness, fatigue, difficulty swallowing, or breathing problems suggestive of a congenital myasthenic syndrome.
Limitations
- ⚠This test only analyses the GFPT1 gene; other genes involved in congenital myasthenic syndromes are not evaluated
- ⚠NGS may not detect large structural rearrangements or repeat expansions
Risks & Considerations
- ●Minimal risk of minor pain or bruising at the blood draw site
Interfering Factors
- ●Sample degradation or contamination
- ●Insufficient DNA quantity
- ●Previously known non-pathogenic variants
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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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