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RAPSN Gene Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency NGS Genetic Test

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RAPSN Gene Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency NGS Genetic Test

Short Name: RAPSN Gene Myasthenic Syndrome Test

Also known as: CMS Type 11, RAPSN-Related Congenital Myasthenic Syndrome

RAPSN Gene Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor 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.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the RAPSN gene that cause congenital myasthenic syndrome type 11, aiding in accurate diagnosis, management, and genetic counseling.

Test Code
1748
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)
Step 1

Sample Collection

No special preparation required. Inform your doctor about any medications or health conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Avoid heavy lifting for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications, benefits, and limitations.
2
During the Test:DNA extraction from sample, followed by Next-Generation Sequencing to analyze the RAPSN gene.
3
After the Test:Report generation, review by a geneticist, and delivery via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the RAPSN gene that cause congenital myasthenic syndrome type 11, aiding in accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Follow standard blood collection protocols

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for RAPSN gene mutations is crucial for diagnosing congenital myasthenic syndrome and guiding personalized treatment strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable for extended periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrectly labeled or unlabeled samples
  • Samples collected in wrong container

Understanding Your Results

Test results indicate the presence or absence of pathogenic mutations in the RAPSN gene, confirming or ruling out congenital myasthenic syndrome type 11.
Positive result: Pathogenic variant detected, confirming diagnosis of RAPSN Gene Myasthenic Syndrome.
Negative result: No pathogenic variant found; clinical correlation and further testing may be needed.
Variant of uncertain significance (VUS): Requires genetic counseling and possible family studies for clarification.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like muscle weakness, fatigue, or have a family history of myasthenic syndrome. Genetic counseling is advised before and after testing.

Limitations

  • ⚠May not detect all types of mutations or variants of uncertain significance
  • ⚠Results require interpretation by a geneticist and clinical correlation
  • ⚠Not diagnostic for all forms of myasthenia or related disorders
  • ⚠Genetic counseling is recommended before and after testing

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, soreness, or rare infection
  • ●Psychological impact of genetic results, requiring counseling support

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Hemolyzed blood sample
  • ●Improper storage conditions

Frequently Asked Questions

What is RAPSN Gene Myasthenic Syndrome?
It is a rare genetic disorder caused by mutations in the RAPSN gene, leading to congenital myasthenic syndrome type 11, characterized by muscle weakness and fatigue due to acetylcholine receptor deficiency.
What are the common symptoms of this syndrome?
Symptoms include muscle weakness during activity, fatigue, difficulty swallowing, breathing issues, drooping eyelids, and double vision.
How is RAPSN Gene Myasthenic Syndrome diagnosed?
Diagnosis involves clinical examination, medical history review, and genetic testing such as NGS to identify mutations in the RAPSN gene.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing technology to analyze the RAPSN gene for mutations from a blood or DNA sample.
What is the cost of the RAPSN Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What do positive test results indicate?
Positive results confirm the presence of pathogenic mutations in the RAPSN gene, indicating a diagnosis of congenital myasthenic syndrome type 11.
Is there a cure for RAPSN Gene Myasthenic Syndrome?
There is no cure, but symptoms can be managed with medications like cholinesterase inhibitors and immunosuppressants, along with supportive care.
Who should consider getting this genetic test?
Individuals with symptoms of myasthenic syndrome, a family history of the disorder, or those seeking diagnosis for congenital myasthenic syndrome type 11.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Psychological risks due to genetic results may require counseling.
How can I book the RAPSN Gene Test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance and free home collection scheduling.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

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✓ 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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