NDRG1 Gene CMT4D NGS Genetic Test
Short Name: CMT4D NGS Test
Also known as: Charcot-Marie-Tooth Disease Type 4D Genetic Test, NDRG1 Gene Mutation Analysis, CMT4D NGS Panel
NDRG1 Gene CMT4D 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 Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect pathogenic variants in the NDRG1 gene associated with Charcot-Marie-Tooth disease type 4D, confirming the clinical diagnosis, enabling carrier screening, and guiding genetic counseling and family planning.
- Test Code
- 3964
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Fasting is not necessary. Patients are advised to provide a detailed clinical history and family pedigree during genetic counseling.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
A peripheral blood sample is drawn using a sterile needle. For FTA card, one drop of blood is applied to the card and allowed to air dry.
Report Delivery
No restrictions on daily activities. The sample is transported to the laboratory for DNA extraction and analysis.
Timeline: Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.
About This Test
Who Should Get This Test
To detect pathogenic variants in the NDRG1 gene associated with Charcot-Marie-Tooth disease type 4D, confirming the clinical diagnosis, enabling carrier screening, and guiding genetic counseling and family planning.
How to Prepare
- Blood sample should be collected in an EDTA tube
- FTA card spots should dry completely before sealing
- Extracted DNA should be stored at -20°C and shipped on dry ice
- Ensure correct labeling of the sample with patient details
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic counseling is strongly recommended before and after testing to help patients understand the inheritance pattern, recurrence risks, and reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect sample volume
- Samples with insufficient DNA concentration
- Samples not labeled or improperly stored
Understanding Your Results
Pathogenic variant detected
Confirms a diagnosis of CMT4D. Genetic counseling recommended for family and carrier testing.
Likely pathogenic variant detected
Indicates a high probability of causing CMT4D. Additional evidence may be required for diagnostic confirmation.
Variant of uncertain significance (VUS)
Clinical significance is unclear. Further family studies or functional tests may be helpful.
No pathogenic variant detected
Reduces the likelihood of NDRG1-related CMT4D. Other genetic causes of CMT may need to be investigated.
If you or a loved one have symptoms such as progressive foot weakness, sensory loss, foot deformities, or have a family history of Charcot-Marie-Tooth disease, consult a neurologist or genetic counselor for a comprehensive clinical evaluation and genetic testing.
Limitations
- ⚠NGS may not detect large deletions, duplications, or repeat expansions in the NDRG1 gene
- ⚠Variants of uncertain clinical significance may be reported
- ⚠This test only covers the NDRG1 gene and does not rule out other CMT subtypes
- ⚠Clinical correlation with symptoms and family history is essential
Risks & Considerations
- ●Minimal bleeding or bruising at the site of blood draw
- ●Infection (rare)
- ●Psychological impact of receiving genetic results
Interfering Factors
- ●Maternal cell contamination in prenatal samples
- ●Insufficient DNA quantity or quality
- ●Presence of blood transfusions
- ●Hemolysis or clotting of blood sample
Frequently Asked Questions
What is CMT4D?
How is the NDRG1 Gene CMT4D NGS Genetic Test performed?
Who should consider taking this genetic test?
Is fasting required before the test?
What is the cost of the test?
How long does it take to get results?
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Are there any risks associated with the test?
What does a positive result mean?
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Does DNA Labs India provide raw data files?
Can this test be done during pregnancy for prenatal diagnosis?
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