Skip to main content
DNA Labs India

LRSAM1 Gene CMT2P NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

LRSAM1 Gene CMT2P NGS Genetic Test

Also known as: CMT2P Genetic Test, LRSAM1 Gene Mutation Test, LRSAM1 Charcot-Marie-Tooth Type 2P NGS Test

LRSAM1 Gene CMT2P 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 usually delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the LRSAM1 Gene CMT2P NGS Genetic Test is to confirm a clinical suspicion of Charcot-Marie-Tooth disease type 2P by identifying pathogenic variants in the LRSAM1 gene. It also supports family screening, carrier detection, and risk assessment in affected families.

Test Code
3962
ICD Code
G60.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Ensure the clinician has completed the genetic counselling session and family pedigree chart. Maintain your current medications unless otherwise advised by your doctor.

Method: Venipuncture or FTA card blood spot collection

Step 2

Laboratory Analysis

A small blood sample is collected from a vein in your arm. If using an FTA card, one drop of blood from a finger prick is sufficient.

Step 3

Report Delivery

You may resume normal activities immediately. No special aftercare is required.

Timeline: Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. Genetic counselling and a clinical history with family pedigree are recommended before testing.
2
During the Test:A blood sample will be collected by venepuncture, or one drop of blood on an FTA card will be obtained. The procedure is quick and minimally invasive.
3
After the Test:No precautions are required after sample collection. You can resume all routine activities.

About This Test

Who Should Get This Test

The purpose of the LRSAM1 Gene CMT2P NGS Genetic Test is to confirm a clinical suspicion of Charcot-Marie-Tooth disease type 2P by identifying pathogenic variants in the LRSAM1 gene. It also supports family screening, carrier detection, and risk assessment in affected families.

How to Prepare

  • Bring your prescription or clinical summary
  • Bring previous EMG/NCS reports, if available
  • Ensure the sample is correctly labelled before leaving the collection center

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"A multidisciplinary approach involving clinical genetics, neurology, and obstetrics-gynecology helps families understand recurrence risks and reproductive options when CMT2P is confirmed."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube / FTA card / DNA vial
Collection MethodVenipuncture or FTA card blood spot collection

Sample Stability

Whole blood (EDTA): stable at 2-8°C for up to 72 hours
Dried blood on FTA card: stable at room temperature for several weeks
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolysed blood sample
  • Clotted sample without proper anticoagulant
  • Sample received without proper labelling
  • Sample exposed to extreme heat or frozen improperly

Understanding Your Results

The test result should be interpreted by a clinical geneticist in the context of clinical findings, family history, and other investigations. A positive result identifies a pathogenic or likely pathogenic variant in the LRSAM1 gene.
Negative: No pathogenic variant detected in the LRSAM1 gene.
Positive: A pathogenic/likely pathogenic variant detected in the LRSAM1 gene confirms the molecular diagnosis of CMT2P.
Variant of Uncertain Significance (VUS): Additional family studies and clinical correlation may be required.
⚠️ When to Consult a Doctor:

Consult a neurologist if you or a family member have progressive weakness in the hands or feet, sensory loss, unsteady gait, or foot deformities, especially if there is a family history of Charcot-Marie-Tooth disease.

Limitations

  • ⚠NGS may not detect all structural variants, deep intronic mutations, or repeat expansions
  • ⚠A negative result does not exclude CMT caused by other genes
  • ⚠Variant classification may change as new scientific evidence emerges
  • ⚠Results must be interpreted in the context of clinical and family history

Risks & Considerations

  • ●Mild bruising or discomfort at the needle site
  • ●Rare risk of infection at the venepuncture site
  • ●Fainting or dizziness during blood collection, though uncommon

Interfering Factors

  • ●Poor DNA quality or degraded sample
  • ●Contamination during sample collection or processing
  • ●Known bone marrow transplantation may affect DNA results
  • ●Large gene rearrangements may not be reliably detected by standard NGS

Frequently Asked Questions

What is the LRSAM1 Gene CMT2P NGS Genetic Test?
This test uses next-generation sequencing to examine the LRSAM1 gene and identify disease-causing mutations associated with Charcot-Marie-Tooth disease type 2P.
Who should take this test?
People with symptoms of CMT2P such as progressive muscle weakness, numbness, foot deformities, or a family history of Charcot-Marie-Tooth disease. It should be ordered by a neurologist or genetic specialist.
Is fasting required for this test?
No, fasting is not required. You can eat and drink normally before the test.
How is the sample collected?
The sample can be collected as a blood sample in an EDTA vacutainer, one drop of blood on an FTA card, or extracted DNA. A trained phlebotomist will guide you.
What is the cost of the test?
The test costs Rs 20,000 at DNA Labs India. Free home sample collection is available for online bookings.
How long will the reports take?
Reports are usually available within 3 to 4 weeks after the sample reaches the lab.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant was found in the LRSAM1 gene, consistent with a molecular diagnosis of CMT2P.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the LRSAM1 gene. However, it does not completely rule out CMT caused by other genes or undetectable variant types.
Does the test detect all genetic causes of CMT?
No, this test only analyzes the LRSAM1 gene. If CMT is suspected, a comprehensive CMT NGS panel may be recommended by your doctor.
Is genetic counseling required?
Yes, pre-test genetic counselling is recommended to draw a family pedigree and to review the implications of testing. DNA Labs India includes a genetic counselling session before the test.
Can I get raw data files?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report for transparency.
Will insurance cover this test?
Insurance coverage depends on your policy and provider. Many insurers cover genetic testing when ordered by a doctor, but you should confirm with your insurer before booking.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference 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.

LIMS Integration

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.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.