Skip to main content
DNA Labs India

PMP22 Gene CMT1E NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PMP22 Gene CMT1E NGS Genetic Test

Short Name: PMP22 CMT1E NGS Test

Also known as: CMT1E Genetic Test, PMP22 Gene Sequencing, Charcot-Marie-Tooth Type 1E DNA Test

PMP22 Gene CMT1E 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 after sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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 PMP22 gene that cause Charcot-Marie-Tooth disease type 1E (CMT1E), enabling accurate diagnosis, carrier testing, and informed genetic counseling.

Test Code
1547
ICD Code
G60.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended to understand the test and implications.

Method: Venipuncture or fingerstick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture in a sterile environment.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis.

Timeline: 3 to 4 weeks after sample receipt

Patient Instructions

1
Before the Test:Understand the test implications through genetic counseling. No specific preparation required.
2
During the Test:Sample collection process as described.
3
After the Test:Wait for results and follow up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the PMP22 gene that cause Charcot-Marie-Tooth disease type 1E (CMT1E), enabling accurate diagnosis, carrier testing, and informed genetic counseling.

How to Prepare

  • Ensure proper identification of patient
  • Use appropriate collection tubes
  • Label samples correctly
  • Maintain sample integrity during transport

Doctor's Notes

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

"Genetic testing for PMP22 gene is crucial for confirming CMT1E diagnosis, aiding in management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml of blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or fingerstick

Sample Stability

Blood sample: stable for 48 hours at room temperature
DNA extract: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

The test results indicate the presence or absence of mutations in the PMP22 gene. A positive result confirms a diagnosis of CMT1E, while a negative result may require further testing if clinical suspicion remains high.
📊

Positive for pathogenic variant

Diagnosis of CMT1E confirmed. Genetic counseling and management plan recommended.

📊

Negative for pathogenic variant

CMT1E unlikely, but other genetic or non-genetic causes should be explored.

📊

Variant of uncertain significance

Further studies and clinical correlation needed.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if test results are positive, or if symptoms persist despite negative results.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Not a standalone diagnostic tool; other tests may be needed

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of results
  • ●Potential for incidental findings

Interfering Factors

  • ●Contaminated DNA sample
  • ●Improper sample storage
  • ●Technical errors in sequencing

Compare With Similar Tests

TestPMP22 Gene CMT1E NGS Genetic TestPMP22 Gene Duplication TestCMT Genetic PanelNerve Conduction Study
ComparisonPMP22 Gene CMT1E NGS Genetic TestFocuses on duplication mutations common in CMT1A, whereas CMT1E involves point mutations in PMP22.Tests multiple genes associated with CMT, providing broader but less specific analysis.Non-genetic test that assesses nerve function but does not identify genetic cause.

Frequently Asked Questions

What is the PMP22 Gene CMT1E NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the PMP22 gene associated with Charcot-Marie-Tooth disease type 1E.
Why is this test important?
It provides a definitive diagnosis for CMT1E, which is crucial for management, genetic counseling, and family planning.
What symptoms indicate the need for this test?
Symptoms such as muscle weakness, numbness in extremities, foot deformities, and balance issues may warrant testing.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to sequence the PMP22 gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
Is home collection available?
Yes, we offer free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the results mean?
A positive result indicates a mutation causing CMT1E, while a negative result suggests the absence of such mutations.
Is genetic counseling required?
We recommend a genetic counseling session before and after the test to understand the implications.
Can this test be used for carrier testing?
Yes, it can identify carriers of PMP22 mutations.
What is the accuracy of the test?
NGS provides high accuracy, but results should be interpreted in conjunction with clinical findings.
How do I book the test?
You can book online through our website or contact us via phone or WhatsApp.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.