PMP22 Gene Neuropathy with liability to pressure palsies [HNPP] NGS Genetic Test
Short Name: HNPP NGS Genetic Test
Also known as: HNPP, Tomaculous Neuropathy, PMP22 Deletion Syndrome
PMP22 Gene Neuropathy with liability to pressure palsies [HNPP] 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 are delivered within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify the deletion of the PMP22 gene on chromosome 17p12 that causes Hereditary Neuropathy with liability to Pressure Palsies. The test supports clinical diagnosis, helps distinguish HNPP from other peripheral neuropathies, and assists in genetic counseling for affected families.
- Test Code
- 4419
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No fasting is required. Clinical history and genetic counseling are recommended before the test. A pedigree chart of family members affected with HNPP may be prepared during the counseling session.
Method: Peripheral venipuncture or finger-prick for FTA card
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. If an FTA card is used, a single drop of blood is collected by finger-prick. The procedure is safe and requires minimal time.
Report Delivery
The sample will be sent to the laboratory for analysis. You may resume normal activities immediately after the collection. The clinical report and raw data files will be shared within the specified turnaround time.
Timeline: Reports are delivered within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify the deletion of the PMP22 gene on chromosome 17p12 that causes Hereditary Neuropathy with liability to Pressure Palsies. The test supports clinical diagnosis, helps distinguish HNPP from other peripheral neuropathies, and assists in genetic counseling for affected families.
How to Prepare
- For Blood: Collect in an EDTA vacutainer (3-5 mL).
- For FTA Card: Apply one drop of blood in the marked circle and air-dry before sealing.
- For Extracted DNA: Provide 1-2 micrograms of high-quality DNA in a sterile vial.
- Ensure the sample is labeled with the patient's name and unique identifier.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for HNPP is useful for confirming the clinical diagnosis, enabling early intervention and genetic counseling for at-risk family members. NGS technology provides comprehensive analysis of the PMP22 region, and the inclusion of raw data files ensures transparency and allows for secondary validation if needed."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Mislabeled sample
- Sample grossly contaminated
Understanding Your Results
Negative
No deletion detected in the PMP22 gene region. HNPP is unlikely, but other neuropathies should be considered.
Action: Continue clinical evaluation and consider further testing if symptoms persist.
Positive
Deletion detected in the PMP22 gene region. This is consistent with HNPP.
Action: Genetic counseling is recommended for the patient and family members.
Variant of Unknown Significance
An alteration was found, but its clinical relevance is not yet established.
Action: Further family studies and functional analyses may be required.
If you or a family member suffers from recurrent pressure palsies, weakness, numbness, or foot drop, or if there is a confirmed family history of HNPP, consult a neurologist for clinical evaluation and genetic counseling.
Limitations
- ⚠NGS-based analysis mainly detects single, known deletion of the PMP22 gene region; other rare non-specified structural variants might not be covered.
- ⚠Results should be interpreted by a geneticist in the context of the patient's clinical history and family pedigree.
- ⚠A negative result does not completely rule out other causes of peripheral neuropathy.
Risks & Considerations
- ●Minimal bleeding or bruising at the blood collection site
- ●Rare possibility of infection
Interfering Factors
- ●Poor DNA quality due to sample degradation
- ●Contamination of sample with non-human DNA
- ●Inappropriate sample storage or transport
- ●Incorrect sample labeling
- ●Inadequate sample volume
Compare With Similar Tests
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| Comparison | PMP22 Gene Neuropathy with liability to pressure palsies [HNPP] NGS Genetic Test |
Frequently Asked Questions
What is the cost of the PMP22 gene HNPP NGS genetic test?
What type of sample is required for this HNPP genetic test?
Do I need to fast for this genetic test?
How long will the HNPP NGS report take?
What is hereditary neuropathy with liability to pressure palsies (HNPP)?
How does the NGS genetic test detect HNPP?
What are the symptoms of HNPP?
Is home sample collection available?
Do I need a doctor's prescription for this test?
Will I get raw data (FASTQ, VCF) along with the clinical report?
Are there any risks associated with the sample collection?
Can this test be done for family members who do not have symptoms?
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