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MPZ Gene CMT2J NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MPZ Gene CMT2J NGS Genetic Test

Short Name: MPZ Gene CMT2J NGS Test

Also known as: CMT2J, Charcot-Marie-Tooth Disease Type 2J

MPZ Gene CMT2J 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.

NGS Genetic Test🏠 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 MPZ gene for confirming diagnosis of Charcot-Marie-Tooth disease type 2J (CMT2J).

Test Code
1552
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

Patient should provide detailed clinical history and family pedigree. Genetic counseling session is recommended.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample using FTA card.

Step 3

Report Delivery

Apply pressure to puncture site; store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Patient should provide detailed clinical history and family pedigree. Genetic counseling session is recommended.
2
During the Test:Blood sample collected via venipuncture or saliva sample using FTA card.
3
After the Test:Apply pressure to puncture site; store sample as instructed.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the MPZ gene for confirming diagnosis of Charcot-Marie-Tooth disease type 2J (CMT2J).

How to Prepare

  • Fast not required
  • Bring identification and doctor's prescription
  • Sample can be collected at home or lab

Doctor's Notes

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

"Early genetic diagnosis of CMT2J allows for better management and genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood in EDTA: stable for 7 days at 2-8°C
FTA card: stable at room temperature for months
Sample Rejection Criteria:
  • Hemolyzed sample
  • Incorrect labeling
  • Insufficient sample

Understanding Your Results

Results indicate presence or absence of mutations in the MPZ gene associated with CMT2J.
📊

No mutation detected

Unlikely to have CMT2J due to MPZ gene mutations, but clinical correlation needed.

📊

Pathogenic variant detected

Confirms diagnosis of CMT2J; genetic counseling recommended.

📊

Variant of uncertain significance

Further testing and family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or if test results are positive or uncertain, consult a neurologist or geneticist.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Not available for prenatal diagnosis in some cases

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare infection risk
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA
  • ●Insufficient sample volume

Compare With Similar Tests

TestMPZ Gene CMT2J NGS Genetic Test
ComparisonMPZ Gene CMT2J NGS Genetic Test

Frequently Asked Questions

What is MPZ Gene CMT2J NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the MPZ gene, which causes CMT2J, a subtype of Charcot-Marie-Tooth disease.
What are the symptoms of CMT2J?
Symptoms include muscle weakness in feet and lower legs, difficulty walking, numbness, tingling, loss of sensation, and foot deformities like high arches.
How is the test performed?
The test analyzes DNA from a blood or saliva sample using next-generation sequencing technology.
What is the cost of the test?
The cost in India is INR 20000, which may vary slightly by location.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
Who should get tested for CMT2J?
Individuals with symptoms of CMT, family history of the disease, or progressive neurological issues should consider testing.
What does a positive result mean?
A positive result confirms a diagnosis of CMT2J due to MPZ gene mutations, requiring genetic counseling.
Is genetic counseling necessary?
Yes, genetic counseling is recommended to understand results, implications, and family planning.
Can the test detect other types of CMT?
No, this test specifically targets MPZ gene mutations for CMT2J; other genes may require separate tests.
What is the accuracy of the test?
The test uses advanced NGS technology, providing high accuracy for detecting pathogenic variants in the MPZ gene.
How to book the test?
You can book online through DNA Labs India website or contact them via phone or WhatsApp for assistance.
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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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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