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PRX Gene CMT4F NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PRX Gene CMT4F NGS Genetic Test

Short Name: PRX Gene CMT4F NGS

Also known as: PRX Gene Sequencing, PRX Mutation Analysis, CMT4F Genetic Test, Charcot-Marie-Tooth Type 4F NGS

PRX Gene CMT4F 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 Samples are processed after receipt. NGS, bioinformatics analysis, and clinical interpretation take approximately 3 to 4 weeks.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

This test is performed to identify pathogenic or likely pathogenic variants in the PRX gene. It is used to confirm a clinical suspicion of CMT4F, support carrier testing in at-risk family members, and inform medical management and reproductive planning.

Test Code
3969
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Samples are processed after receipt. NGS, bioinformatics analysis, and clinical interpretation take approximately 3 to 4 weeks.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Provide a copy of clinical history and relevant neurological examination findings. Genetic counselling before testing is recommended to draw a pedigree chart.

Method: Peripheral blood collection / FTA card blood spot / DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample, or you can apply a single blood spot onto the FTA card as per instructions.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be transported to the laboratory at ambient temperature.

Timeline: Samples are processed after receipt. NGS, bioinformatics analysis, and clinical interpretation take approximately 3 to 4 weeks.

Patient Instructions

1
Before the Test:No special preparation is needed. A neurology referral is helpful, and pre-test genetic counselling is recommended to document family history.
2
During the Test:The test requires only a standard blood sample or an FTA card blood spot. The procedure is quick and painless in most cases.
3
After the Test:No restrictions are needed after sample collection. You will be informed once the sample reaches the laboratory and when the report is ready.

About This Test

Who Should Get This Test

This test is performed to identify pathogenic or likely pathogenic variants in the PRX gene. It is used to confirm a clinical suspicion of CMT4F, support carrier testing in at-risk family members, and inform medical management and reproductive planning.

How to Prepare

  • No fasting is required before sample collection.
  • If providing whole blood, use an EDTA vacutainer and mix gently.
  • If using FTA card, apply a single blood spot and allow it to air-dry.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"CMT4F is a progressive demyelinating neuropathy; a precise genetic diagnosis is essential for accurate prognosis, rehabilitation planning, and genetic counselling of affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeOne EDTA blood tube or one blood spot on FTA card or extracted DNA
ContainerEDTA vacutainer / FTA card / DNA microcentrifuge tube
Collection MethodPeripheral blood collection / FTA card blood spot / DNA submission

Sample Stability

Whole blood: 24 hours at room temperature; 72 hours at 2-8°C
FTA card: stable at room temperature for several days
Extracted DNA: stable at 2-8°C for up to one week
Sample Rejection Criteria:
  • Grossly hemolyzed or clotted blood sample
  • Insufficient sample quantity or poor DNA quality
  • Mislabelled sample or missing patient identification
  • FTA card sample not dried or contaminated
  • Missing clinical history, consent, or counselling documentation

Understanding Your Results

Results of genetic testing should be interpreted in the context of clinical findings, nerve conduction study results, and family history.
📊

Positive

A pathogenic or likely pathogenic PRX variant was identified, confirming a molecular diagnosis of CMT4F.

📊

Negative

No clinically significant PRX variant was detected. Other CMT genes or alternative diagnoses may need to be considered.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its disease association is unclear. Additional family segregation studies may help clarify its significance.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you have progressive distal weakness, sensory loss, foot deformities, or a family history of inherited neuropathy. Genetic testing should be ordered after clinical evaluation and proper counselling.

Limitations

  • ⚠This is a targeted PRX gene test and does not detect mutations in other CMT-related genes.
  • ⚠NGS may not reliably detect all large structural rearrangements.
  • ⚠Variants of uncertain significance may require family segregation studies.
  • ⚠Genetic test results cannot predict age of onset or severity of symptoms.
  • ⚠A negative result does not exclude all rare non-coding PRX variants.

Risks & Considerations

  • ●Minimal risk of bleeding or bruising at the venipuncture site
  • ●Mild discomfort during blood collection
  • ●Possible psychological impact from unexpected genetic findings
  • ●No radiation exposure or major procedural risks

Interfering Factors

  • ●Insufficient DNA quantity or quality
  • ●Contamination during sample collection or processing
  • ●Sample mix-up or mislabelling
  • ●Rare large deletions or insertions not detected by standard NGS
  • ●Variants in deep intronic or promoter regions not covered by this test

Compare With Similar Tests

TestPRX Gene CMT4F NGS Genetic Test
ComparisonPRX Gene CMT4F NGS Genetic Test

Frequently Asked Questions

What is the PRX Gene CMT4F NGS Genetic Test?
It is a next-generation sequencing test that analyzes the PRX gene to detect mutations associated with Charcot-Marie-Tooth disease type 4F (CMT4F).
What is CMT4F?
CMT4F is a rare autosomal recessive inherited neuropathy caused by mutations in the PRX gene. It affects peripheral nerves and causes progressive weakness, sensory loss, and foot deformities.
What are the symptoms of CMT4F?
Common symptoms include foot and ankle weakness, difficulty walking, numbness or tingling in the feet and hands, lower leg muscle atrophy, and reduced fine motor skills.
How is CMT4F diagnosed?
Diagnosis is based on clinical examination, nerve conduction studies, and genetic testing. The PRX gene NGS test helps confirm the molecular diagnosis.
What is the cost of the PRX Gene CMT4F NGS Genetic Test at DNA Labs India?
The test costs INR 20,000, which includes home sample collection in eligible cities.
Do I need to fast for this test?
No, fasting is not required for the PRX Gene CMT4F NGS Genetic Test.
What sample is needed for the test?
The sample can be blood in an EDTA tube, one blood spot on an FTA card, or extracted DNA.
How long does it take to get results?
The report is generally delivered in 3 to 4 weeks after the sample is received by the laboratory.
What does a positive PRX gene result mean?
A pathogenic or likely pathogenic variant in the PRX gene confirms the genetic diagnosis of CMT4F.
What does a negative PRX gene result mean?
A negative result means no pathogenic variant was found in the PRX gene; however, CMT caused by other genes cannot be ruled out.
Does this test detect all types of Charcot-Marie-Tooth disease?
No, this is a targeted test for the PRX gene only. Other genes causing different CMT types require separate or panel-based testing.
Can I get home sample collection for this test?
Yes, DNA Labs India provides free home sample collection for online bookings across major cities in India.
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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