MPZ Gene Dejerine-Sottas disease NGS Genetic Test
Short Name: MPZ DSD NGS Test
Also known as: Dejerine-Sottas Disease NGS Genetic Test, MPZ Gene Mutation Test, HMSN III Genetic Test, CMT3 Genetic Test
MPZ 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 Results are generally available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to identify pathogenic mutations in the MPZ gene that cause Dejerine-Sottas Disease. It is used for confirmatory diagnosis in symptomatic individuals, predictive testing in presymptomatic at-risk relatives, carrier testing, and to guide genetic counselling and reproductive decisions.
- Test Code
- 3992
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are generally available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A completed clinical history form and a genetic counselling session are recommended to draw a pedigree chart.
Method: Peripheral blood draw or FTA card prick
Laboratory Analysis
Blood is drawn by trained phlebotomists using standard venipuncture. For FTA card samples, a single drop of blood is applied to the card and air-dried.
Report Delivery
No specific precautions are necessary. Patients may resume daily activities immediately.
Timeline: Results are generally available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic mutations in the MPZ gene that cause Dejerine-Sottas Disease. It is used for confirmatory diagnosis in symptomatic individuals, predictive testing in presymptomatic at-risk relatives, carrier testing, and to guide genetic counselling and reproductive decisions.
How to Prepare
- For blood sample: Collect in EDTA vacutainer and mix gently.
- For FTA card: Apply one drop of blood to each pre-marked circle and let it dry.
- For extracted DNA: Submit at least 2 μg of high-quality DNA in TE buffer.
- Label tube/card with patient name, Date of Birth, and collection date.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing offers families clarity and informed reproductive choices."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood
- Clotted blood
- Insufficient sample volume
- FTA card with bacterial contamination
- Sample leaking or improperly labeled
Understanding Your Results
Positive (Pathogenic variant detected)
Informs management and enables carrier testing for family members
Negative (No pathogenic variant detected)
Further genetic testing may be warranted
Variant of Uncertain Significance (VUS)
Additional family studies or functional evidence may be required
Consult a neurologist or genetic counsellor if you have symptoms such as progressive muscle weakness, numbness, foot deformities, or a family history of Charcot-Marie-Tooth disease before deciding to undergo genetic testing.
Limitations
- ⚠This test may not detect large genomic rearrangements, deep intronic mutations, or repeat expansions.
- ⚠Negative result does not rule out other hereditary neuropathies caused by different genes.
- ⚠Results should be interpreted in conjunction with clinical findings and family history.
Risks & Considerations
- ●Mild pain or bruising at blood draw site
- ●Rarely, fainting or dizziness
- ●No genetic risks associated with the test itself
Interfering Factors
- ●High GC content regions
- ●Pseudogene interference
- ●Low DNA yield
- ●Maternal contamination during prenatal testing
- ●Variants in regulatory regions not covered
Frequently Asked Questions
What is the MPZ Gene Dejerine-Sottas disease NGS genetic test?
Which sample is required for this test?
What is the cost of this test at DNA Labs India?
How many days will the report take?
Does this test require fasting?
Is home sample collection available?
What does a negative result mean?
Can this test be used for carrier testing?
Will I receive raw data files?
What is the turnaround time for outstation samples?
Do I need a doctor's prescription for this test?
Is this test NABL accredited?
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