MED25 Gene CMT2B2 NGS Genetic Test
Short Name: MED25 CMT2B2 NGS Test
Also known as: MED25 Gene Sequencing Test, CMT2B2 Genetic Test, Charcot-Marie-Tooth Type 2B2 DNA Test, MED25 Neuropathy Panel, MED25 NGS Panel
MED25 Gene CMT2B2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at 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 purpose of the MED25 Gene CMT2B2 NGS Genetic Test is to confirm or rule out a molecular diagnosis of CMT2B2 in individuals presenting with clinical features of hereditary motor and sensory neuropathy. This test aids clinicians in establishing a definitive genetic diagnosis, differentiating CMT2B2 from other CMT subtypes and acquired neuropathies, guiding prognosis and management decisions, enabling carrier testing and family risk assessment, informing reproductive counseling, and facilitating enrollment in clinical trials or emerging therapies targeting specific genetic neuropathies.
- Test Code
- 1555
- CPT Code
- 81405
- ICD Code
- G60.1
- 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 at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis
Sample Collection
A genetic counseling session is strongly recommended prior to sample collection to document the clinical history of the patient, construct a pedigree chart of affected family members, and discuss the implications, benefits, and limitations of genetic testing. No fasting is required. Inform the laboratory of any recent blood transfusions or bone marrow transplants.
Method: Venipuncture / FTA Card blood spot
Laboratory Analysis
A peripheral venous blood sample (3–5 mL) is collected in an EDTA (lavender-top) tube under standard aseptic conditions. Alternatively, a single blood drop on an FTA card may be used. Home sample collection is available at no additional charge across major Indian cities for online bookings.
Report Delivery
Label the sample with patient demographics and send to the laboratory at ambient room temperature. Avoid freezing whole blood samples. Results are typically available within 3 to 4 weeks and are delivered via the online portal, email, and/or WhatsApp.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MED25 Gene CMT2B2 NGS Genetic Test is to confirm or rule out a molecular diagnosis of CMT2B2 in individuals presenting with clinical features of hereditary motor and sensory neuropathy. This test aids clinicians in establishing a definitive genetic diagnosis, differentiating CMT2B2 from other CMT subtypes and acquired neuropathies, guiding prognosis and management decisions, enabling carrier testing and family risk assessment, informing reproductive counseling, and facilitating enrollment in clinical trials or emerging therapies targeting specific genetic neuropathies.
How to Prepare
- Collect 3–5 mL peripheral venous blood in an EDTA (lavender-top) vacutainer tube
- Alternatively, apply one drop of blood to an FTA card and allow it to dry completely
- Ensure proper patient identification labeling on the sample tube or card
- Store and transport the sample at ambient room temperature (15–30°C)
- Do not freeze whole blood samples; avoid exposure to extreme heat
- If extracted DNA is being sent, ensure a minimum concentration of 50 ng/µL and volume of 20 µL
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"CMT2B2 caused by MED25 gene mutations is a rare axonal peripheral neuropathy. Early genetic confirmation is essential for accurate prognosis, family planning counseling, and differentiating CMT2B2 from other CMT subtypes. I recommend NGS-based testing for any patient presenting with progressive distal weakness and a compatible family history. Genetic counseling should accompany testing to help families understand inheritance patterns and recurrence risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or requisition form
- Clotted, hemolyzed, or visibly contaminated blood samples
- Insufficient sample volume for DNA extraction
- Samples received in leaking or broken containers
- Whole blood samples stored at temperatures above 37°C for extended periods
- Samples from patients who have undergone recent allogeneic bone marrow transplant (risk of donor DNA contamination)
Understanding Your Results
Pathogenic or Likely Pathogenic variant detected (homozygous or compound heterozygous)
Confirms molecular diagnosis of CMT2B2. Carrier testing of parents is recommended to confirm biallelic inheritance. Genetic counseling for recurrence risk assessment is advised.
Single Pathogenic or Likely Pathogenic variant detected (heterozygous)
The individual is a carrier of one MED25 mutation. Carrier testing of the other parent is recommended. The patient may not manifest CMT2B2 symptoms unless a second variant is identified.
Variant of Uncertain Significance (VUS) detected
A variant was identified that cannot be definitively classified as pathogenic or benign with current evidence. Clinical correlation and family segregation studies are recommended. Reanalysis may be warranted as new data become available.
No pathogenic variant detected
No clinically significant variants were identified in the MED25 gene. CMT2B2 is unlikely but cannot be fully excluded. Consider alternative genetic etiologies or expanded neuropathy gene panels if clinical suspicion remains high.
Consult a neurologist or clinical geneticist if the test identifies a pathogenic or likely pathogenic variant, if a VUS is found and clinical symptoms are present, if the result is negative but clinical suspicion for hereditary neuropathy remains, or if you require guidance on prognosis, management, family screening, or reproductive planning based on the test outcome.
Limitations
- ⚠This test targets the MED25 gene only and does not screen for mutations in other CMT-associated genes
- ⚠Large structural variants, copy number variations, and repeat expansions may not be reliably detected by standard NGS
- ⚠Intron regions beyond the ±20 bp splice-site boundaries are not covered
- ⚠Variant interpretation depends on current knowledge; variants of uncertain significance (VUS) may be reclassified as new evidence emerges
- ⚠This test does not rule out CMT caused by mutations in other genes (e.g., MFN2, PMP22, MPZ, GJB1, GDAP1)
- ⚠Results should always be interpreted in conjunction with clinical findings, family history, and electrodiagnostic studies
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very small risk of infection at the blood draw site (standard aseptic precautions observed)
- ●Psychological or emotional impact of genetic test results; genetic counseling recommended
- ●Potential identification of variants of uncertain significance that may cause anxiety
- ●Possible implications for insurance or employment; consult a genetic counselor about relevant laws and protections
Interfering Factors
- ●Recent blood transfusion within the past 4 weeks may affect DNA quality and genotyping accuracy
- ●Degraded or insufficient DNA extracted from improperly stored samples
- ●Hemolyzed or clotted blood samples may compromise extraction yields
- ●Presence of somatic mosaicism may result in sub-threshold variant detection
- ●Co-administration of anticoagulants at high doses may affect blood sample quality
Compare With Similar Tests
| Test | MED25 Gene CMT2B2 NGS Genetic Test | PMP22 Gene Deletion/Duplication (CMT1A) | MFN2 Gene Sequencing (CMT2A) | GJB1 Gene Sequencing (CMTX1) | CMT Comprehensive Gene Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|---|
| Comparison | MED25 Gene CMT2B2 NGS Genetic Test | Targets the most common CMT subtype (CMT1A), which is a demyelinating form caused by PMP22 duplication. Unlike CMT2B2, CMT1A typically presents with markedly reduced nerve conduction velocities. | Detects mutations in MFN2 causing axonal CMT2A, the most common axonal CMT subtype. CMT2A and CMT2B2 share an axonal pattern but differ in genetic basis and may differ in severity and optic atrophy involvement. | Identifies GJB1 mutations causing X-linked CMT (CMTX1). Inheritance pattern (X-linked dominant) differs from the autosomal recessive pattern of CMT2B2. | A multi-gene panel covering 50+ CMT-associated genes simultaneously. Useful when clinical presentation is nonspecific and the exact subtype is uncertain. More comprehensive but may identify VUS in multiple genes. | Sequencing of all protein-coding genes genome-wide. Considered when targeted gene testing is negative and a genetic etiology is still suspected. Higher chance of incidental findings and requires extensive genetic counseling. |
Frequently Asked Questions
What is the MED25 Gene CMT2B2 NGS Genetic Test?
What is CMT2B2 and how does it differ from other types of CMT?
What are the common symptoms of CMT2B2?
Who should consider getting the MED25 Gene CMT2B2 test?
What sample is required for this genetic test?
How much does the MED25 Gene CMT2B2 NGS Genetic Test cost?
How long does it take to get the results?
What does it mean if the test detects a pathogenic variant?
What is a Variant of Uncertain Significance (VUS)?
Does a negative test result rule out CMT2B2?
Is genetic counseling available with this test?
Does DNA Labs India provide raw sequencing data with the report?
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