LMNA Gene CMT2B1 NGS Genetic Test
Short Name: LMNA CMT2B1 NGS Test
Also known as: LMNA Gene Sequencing Test, CMT2B1 Genetic Test, Lamin A/C Gene Mutation Analysis, Charcot-Marie-Tooth Type 2B1 NGS Test, LMNA Related Emery-Dreifuss Muscular Dystrophy Panel
LMNA Gene CMT2B1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (for confirmation if required), Bioinformatic Analysis and Variant Interpretation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 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 primary purpose of the LMNA Gene CMT2B1 NGS Genetic Test is to confirm or rule out a genetic diagnosis of Charcot-Marie-Tooth disease type 2B1 by detecting pathogenic or likely pathogenic variants in the LMNA gene. This test is essential for establishing a definitive molecular diagnosis in patients presenting with clinical features suggestive of an axonal peripheral neuropathy, particularly when there is a family history consistent with autosomal recessive inheritance. Genetic confirmation enables accurate prognosis, guides appropriate management strategies including physiotherapy and orthotic interventions, facilitates family planning through carrier testing and prenatal diagnosis options, and allows for screening of at-risk family members. Additionally, as LMNA mutations are pleiotropic, a positive result may prompt cardiac screening and monitoring for associated laminopathy manifestations such as cardiomyopathy or conduction defects, even if these are not yet clinically apparent. The test also contributes to genetic counselling by establishing the precise mode of inheritance and recurrence risk within families.
- Test Code
- 1554
- CPT Code
- 81479
- ICD Code
- G60.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing (for confirmation if required), Bioinformatic Analysis and Variant Interpretation
Sample Collection
No special preparation or fasting is required. Provide complete clinical history and family pedigree information. A genetic counselling session is recommended prior to testing to discuss test implications, limitations, and potential outcomes.
Method: Venipuncture / FTA Card blood spot
Laboratory Analysis
A 3-5 mL peripheral blood sample will be collected via venipuncture into an EDTA vacutainer. Alternatively, a blood drop on an FTA card or previously extracted DNA may be used. The procedure takes approximately 5-10 minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or gauze for 3-5 minutes. The sample will be transported under appropriate conditions to the laboratory. Results will be available within 3 to 4 weeks via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the LMNA Gene CMT2B1 NGS Genetic Test is to confirm or rule out a genetic diagnosis of Charcot-Marie-Tooth disease type 2B1 by detecting pathogenic or likely pathogenic variants in the LMNA gene. This test is essential for establishing a definitive molecular diagnosis in patients presenting with clinical features suggestive of an axonal peripheral neuropathy, particularly when there is a family history consistent with autosomal recessive inheritance. Genetic confirmation enables accurate prognosis, guides appropriate management strategies including physiotherapy and orthotic interventions, facilitates family planning through carrier testing and prenatal diagnosis options, and allows for screening of at-risk family members. Additionally, as LMNA mutations are pleiotropic, a positive result may prompt cardiac screening and monitoring for associated laminopathy manifestations such as cardiomyopathy or conduction defects, even if these are not yet clinically apparent. The test also contributes to genetic counselling by establishing the precise mode of inheritance and recurrence risk within families.
How to Prepare
- No fasting required before sample collection
- Provide informed consent for genetic testing
- Share detailed clinical history and family pedigree chart
- Attend a genetic counselling session before or after sample collection
- Avoid blood transfusion within 30 days prior to sample collection
- For FTA card samples, ensure proper air drying of the blood spot before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Charcot-Marie-Tooth disease type 2B1 caused by LMNA gene mutations is an autosomal recessive axonal neuropathy that requires early genetic confirmation to guide prognosis, family counselling, and management strategies. NGS-based testing provides comprehensive coverage of the LMNA gene with high sensitivity for detecting point mutations, small insertions, and deletions. I recommend this test for any patient presenting with progressive distal limb weakness, foot deformities, and a family history consistent with autosomal recessive inheritance. Early diagnosis through genetic testing allows for timely physiotherapy intervention, orthotic management, and genetic counselling for at-risk family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper labeling or patient identification
- Hemolyzed, clotted, or insufficient blood volume in EDTA vacutainer
- Sample collected in incorrect anticoagulant tube (e.g., heparin)
- FTA card with overlapping blood spots or improperly dried sample
- Sample received without signed consent form or requisition form
Understanding Your Results
Pathogenic Variant Detected (Homozygous)
High
Pathogenic Variant Detected (Compound Heterozygous)
High
Single Pathogenic Variant Detected (Heterozygous Carrier)
Moderate
Variant of Uncertain Significance (VUS)
Uncertain
No Pathogenic Variant Detected (Negative)
Low
Consult a neurologist or clinical geneticist if you experience progressive weakness in the feet or legs, frequent tripping or difficulty walking, loss of sensation or tingling in the extremities, foot deformities such as high arches or hammer toes, or if there is a family history of Charcot-Marie-Tooth disease. After receiving your test results, a genetic counsellor or the referring physician should be consulted to understand the implications, discuss management options, and plan appropriate follow-up screening including cardiac evaluation if LMNA-related laminopathy is confirmed.
Limitations
- ⚠This test targets coding exons and flanking intronic regions of the LMNA gene only; deep intronic or regulatory region variants may not be detected
- ⚠Variants of uncertain significance (VUS) may be identified and may require further investigation or family studies for reclassification
- ⚠This test does not detect variants in other genes associated with Charcot-Marie-Tooth disease or other forms of hereditary neuropathy
- ⚠Large deletions or duplications involving the entire gene or multiple exons may occasionally be missed by NGS and may require confirmatory MLPA testing
- ⚠A negative result does not completely exclude hereditary neuropathy as other genetic causes may be responsible
Risks & Considerations
- ●Minimal physical risk — slight bruising or discomfort at the venipuncture site
- ●Possible identification of variants of uncertain significance that may cause anxiety
- ●Potential discovery of incidental findings related to other LMNA-associated conditions
- ●Psychological impact of a positive result on the patient and family members
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample may affect sequencing accuracy
- ●Recent blood transfusion within the past 30 days may interfere with results
- ●Presence of mosaicism at low levels may not be detectable by standard NGS protocols
- ●Large structural rearrangements or deep intronic variants may not be fully captured by exon-focused NGS
Compare With Similar Tests
| Test | LMNA Gene CMT2B1 NGS Genetic Test | Comprehensive CMT Gene Panel (NGS) | LMNA Gene Sanger Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | LMNA Gene CMT2B1 NGS Genetic Test | Covers 80+ genes associated with all forms of CMT. Recommended when LMNA testing is negative but clinical suspicion remains high. Provides broader diagnostic coverage. | Traditional sequencing method targeting known hotspot variants. Lower cost but limited to specific exons. NGS provides comprehensive coverage of the entire gene with higher sensitivity. | Analyzes all protein-coding genes genome-wide. Useful when LMNA and panel testing are negative. Higher cost but broader diagnostic yield for undiagnosed neuropathies. |
Frequently Asked Questions
What is the LMNA Gene CMT2B1 NGS Genetic Test?
Who should get the LMNA Gene CMT2B1 NGS Genetic Test?
What sample is required for the LMNA Gene CMT2B1 NGS Genetic Test?
How much does the LMNA Gene CMT2B1 NGS Genetic Test cost in India?
How long does it take to get the results of the LMNA Gene CMT2B1 NGS Genetic Test?
What does a positive LMNA Gene CMT2B1 NGS Genetic Test result mean?
What does a negative LMNA Gene CMT2B1 NGS Genetic Test result mean?
Is the LMNA Gene CMT2B1 NGS Genetic Test painful?
Does DNA Labs India share raw genetic data along with the clinical report?
Is home sample collection available for the LMNA Gene CMT2B1 NGS Genetic Test?
Can LMNA gene mutations cause conditions other than CMT2B1?
Is genetic counselling available before and after the LMNA Gene CMT2B1 NGS Genetic Test?
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