AGRN Gene Myasthenic syndrome, congenital NGS Genetic Test
Short Name: AGRN NGS Genetic Test
Also known as: AGRN Congenital Myasthenic Syndrome NGS, AGRN Gene Sequencing, AGRN-related CMS Genetic Test
AGRN Gene Myasthenic syndrome, congenital NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in The laboratory report is usually delivered within 3 to 4 weeks from the date of sample receipt. The report will be sent through the patient’s preferred method (email, WhatsApp, or online portal) and a hard copy may be provided upon request.. 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 NGS genetic test is to identify pathogenic variants in the AGRN gene that cause congenital myasthenic syndrome. It is intended to confirm a clinical diagnosis, guide treatment and management decisions, provide recurrence risk information for families, and support preconception and prenatal counselling.
- Test Code
- 4372
- ICD Code
- G70.2
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- The laboratory report is usually delivered within 3 to 4 weeks from the date of sample receipt. The report will be sent through the patient’s preferred method (email, WhatsApp, or online portal) and a hard copy may be provided upon request.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required for this genetic test. You may eat and drink normally and continue your regular medications unless instructed otherwise by your physician.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect about 4-5 ml of blood from a vein in your arm. The procedure is quick and relatively painless.
Report Delivery
You can leave immediately after sample collection. A small bandage may be applied at the puncture site; keep it on for a few hours. Mild bruising or tenderness is normal and resolves on its own.
Timeline: The laboratory report is usually delivered within 3 to 4 weeks from the date of sample receipt. The report will be sent through the patient’s preferred method (email, WhatsApp, or online portal) and a hard copy may be provided upon request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic variants in the AGRN gene that cause congenital myasthenic syndrome. It is intended to confirm a clinical diagnosis, guide treatment and management decisions, provide recurrence risk information for families, and support preconception and prenatal counselling.
How to Prepare
- No fasting required
- Inform the lab if you have had a bone marrow transplant or received recent blood transfusion, as these may affect DNA analysis
- Carry a valid government photo ID for verification
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for congenital myasthenic syndrome is essential for accurate diagnosis, recurrence risk counselling, and informed family planning. A multidisciplinary approach involving clinical genetics and neurology is recommended."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labelled vial
- Clotted blood sample
- Insufficient sample volume
- Sample received in a non-sterile or leaking container
Understanding Your Results
Positive / Pathogenic
A disease-causing variant was identified in the AGRN gene. This confirms the diagnosis of AGRN-related congenital myasthenic syndrome and enables carrier testing of family members.
Negative / No variant found
No pathogenic variants were detected in the AGRN coding regions and splice sites. This does not exclude the diagnosis; further testing of other CMS genes or whole exome sequencing may be considered if clinical suspicion persists.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Additional family testing and functional studies may be required to clarify its role. Genetic counselling is recommended.
If you receive a positive result for a pathogenic AGRN variant, or if a variant of uncertain significance is detected, schedule an appointment with a clinical geneticist or neurologist to discuss the implications for your health, family members, and reproductive options. Similarly, if the test is negative but symptoms continue, your doctor may recommend further genetic investigations.
Limitations
- ⚠This test does not detect all known mutations in the AGRN gene, including large deletions/duplications and deep intronic variants.
- ⚠A negative result does not rule out the diagnosis; other genes associated with congenital myasthenic syndrome should be considered.
- ⚠Variants of uncertain significance may require additional family segregation studies.
- ⚠The test is not approved for prenatal diagnosis; such testing should be performed only in specialized settings for reproductive planning.
Risks & Considerations
- ●Minor bleeding or bruising at the puncture site
- ●Mild pain or discomfort during blood draw
- ●Dizziness or fainting during or after blood collection
- ●Very small risk of infection at the puncture site
Interfering Factors
- ●Poor DNA quality or quantity
- ●Presence of homologous genes or pseudogenes
- ●Low-level somatic mosaicism
- ●Large structural rearrangements not detected by standard NGS analysis
- ●Deep intronic variants not covered by this assay
Frequently Asked Questions
What is the cost of the AGRN gene NGS genetic test in India?
What does this genetic test detect?
What type of sample is required for this test?
Do I need to fast before the test?
How long will the test take to produce results?
Is home sample collection available?
What does a positive result mean?
Who should take this genetic test?
Are there any risks from the blood collection?
Can this test detect carriers of AGRN gene mutations?
Is genetic counselling available before the test?
How is AGRN-related congenital myasthenic syndrome inherited?
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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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