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DNA Labs India

Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test

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Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test

Short Name: Arthrogryposis & CMS Gene Panel

Also known as: AMC-CMS Panel, Arthrogryposis and CMS Genetic Test

Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel Test test available at DNA Labs India for ₹36,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Amniotic fluid/ Chorionic villi/ Peripheral blood samples. Results in Reports are typically available within 4-6 weeks after sample receipt.. Free home collection in 300+ cities across India.

Gene Panel🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this gene panel is to identify the underlying genetic cause in individuals suspected of having Arthrogryposis Multiplex Congenita or Congenital Myasthenic Syndrome. By detecting pathogenic variants in genes associated with these conditions, the test aids in confirming the diagnosis, differentiating between subtypes, guiding treatment decisions, and providing accurate recurrence risk for family planning. It is also valuable for prenatal diagnosis in at-risk pregnancies.

Test Code
6037
CPT Code
81408
ICD Code
Q74.3 (Arthrogryposis), G70.9 (CMS)
Price
₹36,000
Sample Type
Amniotic fluid/ Chorionic villi/ Peripheral blood
Result Time
Reports are typically available within 4-6 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Step 1

Sample Collection

No special preparation is required. For prenatal samples, the procedure will be performed by a specialist. Please bring a doctor's prescription.

Method: Venipuncture or amniocentesis/CVS by specialist

Step 2

Laboratory Analysis

Blood sample: standard venipuncture. Amniotic fluid/CVS: performed by an obstetrician under ultrasound guidance.

Step 3

Report Delivery

No specific precautions. Resume normal activities.

Timeline: Reports are typically available within 4-6 weeks after sample receipt.

Patient Instructions

1
Before the Test:Discuss with your doctor about the need for genetic testing. Provide a detailed family history. For prenatal testing, genetic counseling is mandatory.
2
During the Test:The test involves a simple blood draw or prenatal procedure. No special measures are needed.
3
After the Test:You will receive a detailed report. Schedule a follow-up with your doctor to discuss results and implications.

About This Test

Who Should Get This Test

The purpose of this gene panel is to identify the underlying genetic cause in individuals suspected of having Arthrogryposis Multiplex Congenita or Congenital Myasthenic Syndrome. By detecting pathogenic variants in genes associated with these conditions, the test aids in confirming the diagnosis, differentiating between subtypes, guiding treatment decisions, and providing accurate recurrence risk for family planning. It is also valuable for prenatal diagnosis in at-risk pregnancies.

How to Prepare

  • Peripheral blood: Collect in EDTA vacutainer, mix gently.
  • Amniotic fluid: Collect in sterile container, avoid contamination.
  • Chorionic villi: Collect in sterile container with transport medium.
  • Transport samples at 2-8°C if delivery within 24 hours, otherwise frozen.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for arthrogryposis and CMS is crucial for accurate diagnosis, prognosis, and recurrence risk counseling. Early identification can guide management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeAmniotic fluid/ Chorionic villi/ Peripheral blood
Sample Volume5-10 mL blood or 10-15 mL amniotic fluid
ContainerEDTA Vacutainer (blood), Sterile container (amniotic fluid/CVS)
Collection MethodVenipuncture or amniocentesis/CVS by specialist

Sample Stability

Blood: 7 days at 2-8°C, 1 month at -20°C
Amniotic fluid: 48 hours at 2-8°C, 1 week at -20°C
CVS: 48 hours at 2-8°C, 1 week at -20°C
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Incorrect container
  • Sample not labeled properly
  • Sample received after prolonged transit without proper temperature

Understanding Your Results

The interpretation of this gene panel should be performed by a qualified geneticist. Results are reported with variant classifications and clinical significance.
📊

Confirms the genetic diagnosis. Genetic counseling recommended for family planning.

📊

Likely causative; further testing may be needed for confirmation.

📊

Insufficient evidence to determine pathogenicity. Additional family studies may help.

📊

Does not rule out genetic cause; other genes or non-genetic etiologies may be considered.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if you or your child have symptoms suggestive of arthrogryposis or CMS, or if you have a family history of these conditions. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠This panel does not detect all possible genetic causes; some rare genes may not be included.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
  • ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
  • ⚠Prenatal samples require prior genetic counseling and appropriate consent.

Risks & Considerations

  • ●Blood draw: minimal risk of bruising or infection
  • ●Amniocentesis/CVS: small risk of miscarriage or infection (performed by specialist)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor DNA quality or quantity from sample
  • ●Contamination of sample
  • ●Incomplete clinical information
  • ●Genetic variants in non-coding regions not covered by NGS

Compare With Similar Tests

TestArthrogryposis and Congenital Myasthenic Syndrome Gene PanelWhole Exome SequencingTargeted Single Gene Testing
ComparisonArthrogryposis and Congenital Myasthenic Syndrome Gene Panel

Frequently Asked Questions

What is the cost of the Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel?
The cost is INR 36000, which includes free home sample collection and a comprehensive report.
What sample types are accepted for this test?
Peripheral blood, amniotic fluid, or chorionic villi samples are accepted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
The turnaround time is 4-6 weeks from sample receipt.
Do I need a doctor's prescription for this test?
Yes, a doctor's prescription is required. However, it is not applicable for surgery or pregnancy cases or for those planning to travel abroad.
Can this test be done during pregnancy?
Yes, prenatal testing can be done using amniotic fluid or chorionic villi samples, but genetic counseling is mandatory.
What genes are included in this panel?
The panel includes genes associated with arthrogryposis and congenital myasthenic syndrome, such as CHRNE, RAPSN, DOK7, and others. A complete list is available upon request.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant that explains the clinical presentation. Genetic counseling is recommended.
What if no pathogenic variant is found?
A negative result does not rule out a genetic cause. Further testing or re-evaluation may be considered.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
Are there any risks associated with prenatal sample collection?
Amniocentesis and CVS carry a small risk of miscarriage or infection, but these are performed by experienced specialists to minimize risks.
How can I book this test?
You can book online through our website or call our customer care. A doctor's prescription is required.
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.

LIMS Integration

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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