PMP22 Gene CMT1A NGS Genetic Test
Short Name: PMP22 CMT1A NGS Test
Also known as: CMT1A Genetic Test, PMP22 Gene Duplication Test, PMP22 Gene Sequence and Copy Number Analysis
PMP22 Gene CMT1A 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to confirm or exclude CMT1A by detecting PMP22 gene duplication or sequence variants. A molecular diagnosis supports symptom monitoring, early intervention, and genetic counseling for affected families.
- Test Code
- 3958
- 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)
Sample Collection
A pre-test genetic counselling session is recommended. Please bring details of family history and prior neurological investigations. No fasting is required.
Method: Venous blood draw or FTA card blood spot
Laboratory Analysis
During blood collection, a clean venepuncture is performed. If using an FTA card, one drop of blood is placed on the card and allowed to dry. For extracted DNA samples, the tube is labelled and sealed.
Report Delivery
You may leave immediately after sample collection. No special care is needed. The lab will share the report with you in 3 to 4 weeks.
Timeline: 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to confirm or exclude CMT1A by detecting PMP22 gene duplication or sequence variants. A molecular diagnosis supports symptom monitoring, early intervention, and genetic counseling for affected families.
How to Prepare
- Fasting is not required.
- Provide a copy of clinical history and any prior nerve conduction studies.
- A pedigree chart should be drawn during the genetic counselling session.
- If using an FTA card, allow the blood spot to dry completely before packing.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for CMT1A should be performed after relevant clinical assessment. Referring physicians and clinical geneticists work together to ensure the test is appropriate, results are interpreted in the family context, and reproductive or surveillance planning is supported."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- FTA card without blood spot
- Unlabelled sample
- Sample received after recommended transport time
Understanding Your Results
PMP22 duplication detected
Consistent with Charcot-Marie-Tooth disease type 1A.
No PMP22 duplication or pathogenic variant
CMT1A is unlikely; consider other inherited neuropathies or alternative diagnoses.
Variant of uncertain significance detected
Genetic counseling and family segregation studies are advised.
Consult a neurologist or clinical geneticist if you have progressive muscle weakness, foot deformities, numbness in hands or feet, or a family history of Charcot-Marie-Tooth disease.
Limitations
- ⚠This test is targeted to PMP22 and does not assess other genes associated with Charcot-Marie-Tooth disease.
- ⚠A negative result does not rule out CMT caused by other genes or non-genetic neuropathies.
- ⚠Genetic results must be interpreted with clinical and family data; variants of uncertain significance may require further investigation.
Risks & Considerations
- ●Slight pain or bruising at needle site
- ●Dizziness or fainting during blood draw
- ●Possible psychological stress related to genetic results
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination during handling
- ●Incorrect sample labelling
- ●Transport delays causing sample degradation
Compare With Similar Tests
| Test | PMP22 Gene CMT1A NGS Genetic Test | PMP22 MLPA | Comprehensive CMT NGS Panel | Nerve Conduction Study |
|---|---|---|---|---|
| Comparison | PMP22 Gene CMT1A NGS Genetic Test |
Frequently Asked Questions
What is the PMP22 gene CMT1A NGS genetic test?
What are the common symptoms of CMT1A?
Is fasting required before this test?
What sample types are accepted for this test?
How long does it take to get reports?
Does this test include home sample collection?
Do I receive raw data files with the report?
Can this test diagnose CMT1A without a family history?
What does a positive PMP22 duplication result mean?
What is the cost of this test?
Why is genetic counselling required?
Is the test covered by insurance or government schemes?
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