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DNA Labs India

PRX Gene Dejerine-Sottas disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PRX Gene Dejerine-Sottas disease NGS Genetic Test

Short Name: PRX NGS Genetic Test

Also known as: PRX gene sequencing, Dejerine-Sottas disease genetic test, Periaxin gene NGS test

PRX Gene Dejerine-Sottas disease 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 typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages (usually early childhood/adolescence)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To confirm a clinical diagnosis of Dejerine-Sottas disease by identifying pathogenic variants in the PRX gene using next-generation sequencing.

Test Code
4003
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation or fasting is required. Please carry your doctor’s prescription, clinical history, and any previous test reports. A formal genetic counselling session and pedigree chart are recommended before testing.

Method: Blood draw / FTA card sample collection

Step 2

Laboratory Analysis

A simple blood sample is collected by a trained phlebotomist. If using FTA card, one drop of blood is applied to the designated card.

Step 3

Report Delivery

No specific precautions are needed after sample collection. You may resume normal activities immediately.

Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No special preparation is needed. A genetic counselling session is recommended to draw a family pedigree and discuss the implications of the test result.
2
During the Test:A blood sample is drawn or an FTA card blood spot is collected. The sample is then sent to the laboratory for NGS analysis.
3
After the Test:No special precautions are required. You can resume normal activities. The report will be shared through the chosen delivery method.

About This Test

Who Should Get This Test

To confirm a clinical diagnosis of Dejerine-Sottas disease by identifying pathogenic variants in the PRX gene using next-generation sequencing.

How to Prepare

  • Blood: Collected in an EDTA vacutainer
  • Extracted DNA: Provide in a clearly labelled tube
  • FTA Card: Apply one drop of blood on the FTA card and allow to air dry

Doctor's Notes

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

"A molecular confirmation is essential to distinguish Dejerine-Sottas disease from other inherited neuropathies. Genetic counselling before and after testing helps families understand recurrence risk and clinical consequences."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerAs per laboratory instructions
Collection MethodBlood draw / FTA card sample collection

Sample Stability

Blood at ambient room temperature for short transit
Extracted DNA stable for weeks at -20°C if long storage required
FTA card stable at ambient room temperature for years
Sample Rejection Criteria:
  • Improperly labelled sample
  • Haemolysed or clotted blood sample
  • Insufficient sample volume
  • Sample received in improper container
  • Missing clinical information or requisition form

Understanding Your Results

Interpretation of the PRX gene NGS test is based on the detection of sequence variants in the PRX gene and their classification according to ACMG guidelines. The clinical report should be read in the context of the patient’s symptoms, family history, and physical examination findings.
📊

Consistent with a diagnosis of Dejerine-Sottas disease. Clinical correlation and familial testing recommended.

📊

No PRX gene mutation was found. Consider other hereditary neuropathy genes if clinical suspicion persists.

📊

A DNA change was found whose clinical significance is unknown. Family studies and additional tests may be needed.

📊

Not associated with the disease and does not explain the clinical presentation.

⚠️ When to Consult a Doctor:

If your child or adolescent has progressive muscle weakness, sensory loss, balance difficulties, or loss of reflexes, you should consult a neurologist or a clinical geneticist for evaluation and genetic testing.

Limitations

  • This test detects mutations in the PRX gene only and not other causes of inherited neuropathies
  • NGS may not detect large deletions/duplications without complementary analysis
  • Variants of uncertain significance may require familial testing and additional evaluation
  • A negative result does not completely exclude DSD if clinical suspicion remains high

Risks & Considerations

  • Bruising or bleeding at the blood draw site
  • Infection (rare)
  • Psychological distress from genetic result
  • Genetic discrimination concerns (limited by law)

Interfering Factors

  • Low-quality or degraded DNA sample
  • Incomplete clinical information
  • Sample mix-up or improper labelling
  • NGS limitations for certain structural rearrangements or large copy number changes

Compare With Similar Tests

TestPRX Gene Dejerine-Sottas disease NGS Genetic TestPRX Gene NGS TestPMP22 Gene AnalysisCMT/Hereditary Neuropathy NGS PanelNerve Conduction Velocity (NCV) Test
ComparisonPRX Gene Dejerine-Sottas disease NGS Genetic Test

Frequently Asked Questions

What is the PRX gene Dejerine-Sottas disease NGS genetic test?
It is a targeted next-generation sequencing test for the PRX gene, used to detect genetic variants that cause Dejerine-Sottas disease (DSD).
Who should undergo this test?
Patients with clinical features of progressive sensorimotor neuropathy beginning in early childhood/adolescence, or those with a family history of DSD, should discuss testing with a doctor.
What sample is required for this test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for the PRX gene NGS genetic test?
No, fasting is not required for this test.
What is the cost of the PRX gene Dejerine-Sottas disease NGS genetic test?
The test costs INR 20000, which includes laboratory analysis, clinical interpretation, and raw data files.
How will I receive my test results?
Reports are delivered via online portal, email, or WhatsApp in 3 to 4 weeks.
What do the raw data files include?
DNA Labs India shares Raw Data, FASTQ, and VCF files along with the conclusive clinical report for transparency.
Is home sample collection available?
Yes, free home sample collection is available in many cities across India for online bookings.
Can this test confirm Dejerine-Sottas disease?
Detection of a pathogenic PRX mutation can confirm the diagnosis in a clinically affected person.
Can treatment be started based on the test result?
The test helps confirm diagnosis and guide management; treatment and care should be planned by a neurologist.
Does a negative PRX test exclude Dejerine-Sottas disease?
No, DSD can be caused by variants in other genes; clinical correlation is essential.
Why is genetic counselling important before this test?
A genetic counselling session before and after the test helps draw a pedigree and understand inheritance, recurrence risks, and implications for family members.
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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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.

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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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