MPZ Full Length Gene Sequence Analysis (Charcot- Maria-Tooth Disease) Test
Short Name: MPZ Gene Sequencing
Also known as: CMT Gene Test, MPZ Mutation Analysis, Charcot-Marie-Tooth Gene Sequencing
MPZ Full Length Gene Sequence Analysis (Charcot- Maria-Tooth Disease) Test test available at DNA Labs India for ₹30,000. Uses Sanger Sequencing on Peripheral blood / Amniotic Fluid / Chorionic villi / Cord blood samples. Results in 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the MPZ gene that cause Charcot-Marie-Tooth Disease. It aids in confirming a clinical diagnosis, differentiating CMT subtypes, guiding prognosis, and enabling carrier testing and prenatal diagnosis for affected families.
- Test Code
- 6136
- CPT Code
- 81406
- ICD Code
- G60.0
- Price
- ₹30,000
- Sample Type
- Peripheral blood / Amniotic Fluid / Chorionic villi / Cord blood
- Result Time
- 3-4 weeks from sample receipt
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
No special preparation is required. However, a doctor's prescription is mandatory. For prenatal testing, prior genetic counseling is recommended.
Method: Venipuncture / Amniocentesis / CVS
Laboratory Analysis
Blood sample is collected via venipuncture. For prenatal samples, a specialized procedure is performed by a qualified gynecologist.
Report Delivery
No specific precautions. The sample is transported to the laboratory in a cool pack.
Timeline: 3-4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the MPZ gene that cause Charcot-Marie-Tooth Disease. It aids in confirming a clinical diagnosis, differentiating CMT subtypes, guiding prognosis, and enabling carrier testing and prenatal diagnosis for affected families.
How to Prepare
- Use EDTA vacutainer for blood sample
- For amniotic fluid/chorionic villi, use sterile container
- Maintain cool pack during transport
- Label the sample with patient details and date of collection
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for MPZ mutations is crucial for confirming CMT diagnosis and enabling family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled or unlabeled sample
- Sample received after prolonged transit without proper temperature control
Understanding Your Results
No pathogenic variant detected
No mutation in the MPZ gene was identified. This does not rule out CMT caused by other genes.
Pathogenic variant identified
A disease-causing mutation was found, confirming the diagnosis of CMT. Genetic counseling is recommended.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unclear. Further testing or family studies may be needed.
Consult a neurologist or geneticist if you or a family member experience symptoms such as foot drop, muscle weakness, or sensory loss, or if you have a family history of CMT and are planning a family.
Limitations
- ⚠This test does not detect large gene rearrangements or deep intronic mutations
- ⚠Sanger sequencing may miss mosaic variants
- ⚠Interpretation may be limited by incomplete penetrance or variable expressivity
- ⚠Not a comprehensive panel for all CMT-related genes
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●For prenatal sampling, there is a small risk of miscarriage (for CVS/amniocentesis)
Interfering Factors
- ●Contamination of sample with maternal cells in prenatal specimens
- ●DNA degradation due to improper storage or transport
- ●Presence of large deletions/duplications not detected by Sanger sequencing
- ●Rare variants of uncertain significance
Compare With Similar Tests
| Test | MPZ Full Length Gene Sequence Analysis (Charcot- Maria-Tooth Disease) | PMP22 Gene Analysis | CMT Comprehensive Panel | Nerve Conduction Study |
|---|---|---|---|---|
| Comparison | MPZ Full Length Gene Sequence Analysis (Charcot- Maria-Tooth Disease) |
Frequently Asked Questions
What is Charcot-Marie-Tooth Disease?
How is MPZ gene sequencing performed?
What is the cost of the MPZ gene test at DNA Labs India?
Is fasting required for this test?
What sample types are accepted?
How long does it take to get results?
Can this test detect all CMT mutations?
Is home sample collection available?
Do I need a doctor's prescription?
What does a negative result mean?
Is genetic counseling included?
Can this test be used for prenatal diagnosis?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.