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PMP22 Gene Roussy-Levy syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PMP22 Gene Roussy-Levy syndrome NGS Genetic Test

Short Name: PMP22 Roussy-Levy NGS Test

Also known as: Charcot-Marie-Tooth disease type 1B, Hereditary motor and sensory neuropathy type 1B

PMP22 Gene Roussy-Levy syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric to Adult🏠 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

The purpose of this test is to confirm the diagnosis of Roussy-Levy Syndrome by identifying pathogenic mutations in the PMP22 gene using Next Generation Sequencing. It aids in differential diagnosis from other neuropathies, guides treatment strategies, and provides genetic counseling for affected families.

Test Code
1804
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree for genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card with one drop of blood.

Step 3

Report Delivery

Apply pressure to puncture site to stop bleeding. Store samples as instructed.

Timeline: Reports delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Understand the test purpose, provide informed consent, and share medical history.
2
During the Test:Sample collection is minimally invasive and takes a few minutes.
3
After the Test:Wait for 3-4 weeks for results. Genetic counseling recommended.

About This Test

Who Should Get This Test

The purpose of this test is to confirm the diagnosis of Roussy-Levy Syndrome by identifying pathogenic mutations in the PMP22 gene using Next Generation Sequencing. It aids in differential diagnosis from other neuropathies, guides treatment strategies, and provides genetic counseling for affected families.

How to Prepare

  • Use sterile collection tubes
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"For accurate diagnosis of Roussy-Levy Syndrome, consult a genetic counselor and neurologist to interpret test results and plan management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic PMP22 gene mutations. Genetic counseling is essential for understanding implications.
Positive result: Confirms Roussy-Levy Syndrome; recommend further evaluation
Negative result: Excludes PMP22 mutations; consider other diagnostic tests
Variant of uncertain significance: Requires additional testing and clinical correlation
⚠️ When to Consult a Doctor:

Consult a neurologist or genetic counselor if symptoms persist, family history is present, or for result interpretation and management planning.

Limitations

  • ⚠May not detect all types of genetic variations
  • ⚠Results require clinical correlation
  • ⚠False negatives possible in rare cases

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, soreness
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality
  • ●DNA degradation
  • ●Contamination during sample processing

Compare With Similar Tests

TestPMP22 Gene Roussy-Levy syndrome NGS Genetic Test
ComparisonPMP22 Gene Roussy-Levy syndrome NGS Genetic Test

Frequently Asked Questions

What is Roussy-Levy Syndrome?
Roussy-Levy Syndrome is a rare hereditary neuropathy characterized by muscle weakness, gait abnormalities, and sensory loss, often linked to PMP22 gene mutations.
How is the test performed?
The test uses Next Generation Sequencing to analyze the PMP22 gene from a blood or DNA sample.
What are the symptoms indicating this test?
Symptoms include muscle weakness, abnormal walking, loss of sensation, tremors, and scoliosis, typically starting in childhood.
Is home sample collection available?
Yes, DNA Labs India offers free home collection across India for this test.
What does a positive result mean?
A positive result confirms a pathogenic mutation in the PMP22 gene, supporting a diagnosis of Roussy-Levy Syndrome.
How accurate is this genetic test?
NGS technology provides high accuracy, but results should be correlated with clinical findings.
Can this test be done for family members?
Yes, genetic testing can be extended to family members for carrier screening or diagnosis.
What is the cost of the test?
The test costs INR 20000, with possible discounts for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling included?
Yes, DNA Labs India provides genetic counseling as part of the test service.
What files are provided with the report?
Raw Data, FASTQ, and VCF files are shared along with the clinical report for transparency.
Is this test covered by insurance?
Coverage depends on insurance schemes; typically, genetic tests may not be fully covered. Check with your provider.
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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