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DNA Labs India

PMP22 Gene Dejerine-Sottas disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PMP22 Gene Dejerine-Sottas disease NGS Genetic Test

Short Name: PMP22 NGS Genetic Test

Also known as: PMP22 gene mutation analysis, Dejerine-Sottas disease genetic test, Charcot-Marie-Tooth type 3 (CMT3) genetic test, Peripheral myelin protein 22 sequencing

PMP22 Gene Dejerine-Sottas disease 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 from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll ages (symptoms typically begin in childhood)🏠 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 detect mutations in the PMP22 gene that cause Dejerine-Sottas disease, and to support clinicians in establishing a definitive diagnosis, facilitating early management and genetic counseling.

Test Code
3999
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 from sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please provide the clinical history and family pedigree information. For FTA cards, use the sterile lancet provided.

Method: Peripheral blood draw, finger-prick blood spot on FTA card, or pre-extracted DNA sample submission

Step 2

Laboratory Analysis

A blood sample will be collected from a vein in your arm, or a finger-prick will be performed for the FTA card. The procedure takes only a few minutes.

Step 3

Report Delivery

If blood was drawn, keep the collection tube at room temperature and ship to the laboratory as per instructions. FTA cards may be stored at room temperature.

Timeline: 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Prior to testing, patients are advised to undergo a genetic counseling session to prepare a detailed family pedigree and understand the test's implications.
2
During the Test:The test involves providing a blood sample or a simple finger-prick blood spot. The procedure is safe and typically takes less than five minutes.
3
After the Test:After sample collection, the DNA is analyzed by NGS. Results are delivered online or via email, and a genetic counselor is available to discuss the implications.

About This Test

Who Should Get This Test

To detect mutations in the PMP22 gene that cause Dejerine-Sottas disease, and to support clinicians in establishing a definitive diagnosis, facilitating early management and genetic counseling.

How to Prepare

  • Please verify your identity and sample label before collection.
  • For FTA card: apply one drop of blood to the printed circle and let it air dry completely.
  • For EDTA blood: invert the tube gently 8 times to mix the blood with the anticoagulant.
  • Transport the sample to the laboratory within 24 hours.

Doctor's Notes

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

"Early confirmation of PMP22-related neuropathy is critical for optimal patient management. This NGS test provides a reliable molecular diagnosis, enabling timely supportive care and family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for selected collection method
ContainerEDTA vacutainer, sterile tube containing extracted DNA, or FTA card
Collection MethodPeripheral blood draw, finger-prick blood spot on FTA card, or pre-extracted DNA sample submission

Sample Stability

Blood (EDTA): 24 hours at room temperature (15–25°C), 7 days at 2–8°C
FTA card: Dried blood spot stable for several weeks at room temperature
Extracted DNA: Stable for months at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect sample container or anticoagulant
  • Insufficient sample quantity or poor DNA concentration
  • Leaked or broken sample packaging
  • Missing sample labeling or requisition form

Understanding Your Results

The PMP22 gene NGS test is intended for the molecular confirmation of Dejerine-Sottas disease. Test results should be interpreted in the context of clinical findings and family history. A pathogenic/likely pathogenic variant confirms the diagnosis; absence of a variant does not fully exclude the disease.
📊

Pathogenic variant detected

Confirms the diagnosis of Dejerine-Sottas disease. Genetic counseling is recommended.

📊

Variant of uncertain significance (VUS)

Clinical significance is unknown. Further testing of family members may help classify the variant.

📊

No pathogenic variant detected

Does not exclude Dejerine-Sottas disease. Other genetic and non-genetic causes should be considered.

⚠️ When to Consult a Doctor:

Consult a neurologist if you or your child have progressive muscle weakness, sensory loss, unexplained foot deformities, or a family history of hereditary neuropathy.

Limitations

  • ⚠NGS may not detect large deletions or duplications in PMP22
  • ⚠Deep intronic or regulatory region variants are not covered
  • ⚠Variants of uncertain significance may require additional family studies
  • ⚠This test does not analyse other genes known to cause hereditary neuropathy

Risks & Considerations

  • ●Mild bruising or pain at the blood collection site; risk of infection from finger-prick is extremely low.

Interfering Factors

  • ●Poor DNA quality
  • ●Mixing with another individual's sample
  • ●Coagulation of blood sample
  • ●Chemotherapy or bone marrow transplantation affecting DNA analysis

Compare With Similar Tests

TestPMP22 Gene Dejerine-Sottas disease NGS Genetic TestPMP22 NGS SequencingPMP22 MLPA AnalysisWhole Exome Sequencing
ComparisonPMP22 Gene Dejerine-Sottas disease NGS Genetic Test

Frequently Asked Questions

What is Dejerine-Sottas disease?
Dejerine-Sottas disease is a rare inherited peripheral neuropathy characterized by muscle weakness, sensory loss, and impaired coordination. It is often caused by mutations in the PMP22 gene.
How is Dejerine-Sottas disease inherited?
It typically follows an autosomal dominant inheritance pattern, meaning one mutated copy of the PMP22 gene from an affected parent is sufficient to cause the disease. De novo mutations can also occur.
What is the PMP22 gene?
The PMP22 gene provides instructions for producing peripheral myelin protein-22, which is essential for the formation and maintenance of myelin sheaths around peripheral nerves.
How is the PMP22 gene NGS genetic test performed?
The test uses next-generation sequencing technology to read the full coding region of the PMP22 gene and identify mutations. A blood sample, extracted DNA, or FTA card blood spot is used.
What is the cost of the PMP22 gene NGS genetic test?
The test is available at a special price of INR 20000 at DNA Labs India, with free home sample collection in selected cities.
What are the symptoms that indicate the need for this test?
Symptoms include progressive muscle weakness, numbness or tingling in the hands and feet, difficulty walking, foot deformities, and impaired coordination, especially in childhood.
How long does it take to receive the test results?
The turnaround time is typically 3 to 4 weeks from the date of sample receipt.
Will I receive raw data with this test?
Yes, DNA Labs India is transparent and will provide the raw data files in FASTQ and VCF formats along with the clinical test report.
Does the test detect all PMP22 mutations?
NGS detects point mutations and small indels in the coding exons and splice sites. Large deletions/duplications may be detected by MLPA or other copy number analysis methods.
Is fasting required before the test?
No, fasting is not required. The sample can be collected at any time of day.
What type of sample can be used for this test?
The sample can be either venous blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling included with the test?
Yes, a genetic counseling session is part of the test package. It includes drawing a pedigree chart and discussing the implications of the test results for the patient and family.
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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