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DNA Labs India

Gene CMT4J NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

Gene CMT4J NGS Genetic Test

Short Name: CMT4J NGS Test

Also known as: CMT4J Genetic Test, FIG4 Gene Genetic Test, FIG4 NGS Analysis

Gene CMT4J 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 after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify pathogenic or likely pathogenic variants in the FIG4 gene using next-generation sequencing, to confirm or exclude CMT4J in symptomatic individuals and to enable reproductive and family counselling.

Test Code
3977
CPT Code
N/A
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 after the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is needed. A genetic counselling session is required to review family history and draw a pedigree chart. Please carry all relevant medical records and referral letters.

Method: Blood draw / DNA submission / FTA card sample

Step 2

Laboratory Analysis

The sample is collected by a trained professional. If using FTA card, one drop of blood is applied. No anesthesia is required.

Step 3

Report Delivery

No restrictions. The sample will be transported to the laboratory; results are expected in 3 to 4 weeks.

Timeline: 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. Complete the genetic counselling session and provide a detailed clinical history. The genetic counsellor will draw a pedigree chart of family members affected with CMT4J.
2
During the Test:A trained phlebotomist will collect a blood sample or FTA card sample. For extracted DNA sample, submit the DNA aliquot as per the laboratory instruction.
3
After the Test:You may leave immediately after sample collection. The laboratory will process the sample using NGS technology. Reports will be delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic or likely pathogenic variants in the FIG4 gene using next-generation sequencing, to confirm or exclude CMT4J in symptomatic individuals and to enable reproductive and family counselling.

How to Prepare

  • No fasting is required.
  • A genetic counselling session will be arranged before sampling.
  • Please carry your clinical history and previous investigation reports.
  • The sample can be blood, extracted DNA, or one drop of blood on FTA card.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Inherited neuropathies require careful clinical phenotyping; genetic confirmation in the proband is the first step for counselling the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirements
ContainerBlood collection tube / sterile DNA tube / FTA card
Collection MethodBlood draw / DNA submission / FTA card sample

Sample Stability

Whole blood
Extracted DNA
FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Missing label or requisition form
  • Insufficient sample volume or DNA quantity
  • Inappropriate transport temperature

Understanding Your Results

Results should be interpreted by a clinical geneticist in the context of the patient’s clinical signs, family history, and nerve conduction study findings.
📊

No evidence of a FIG4-related CMT4J variant identified in this individual.

📊

Genetic finding consistent with CMT4J if segregation and clinical presentation support the diagnosis.

📊

The clinical significance is unknown. Family studies and further evaluation are needed.

⚠️ When to Consult a Doctor:

If you or a family member has progressive distal weakness, foot drop, hand atrophy, numbness, or a known family history of CMT4J, consult a neurologist or clinical geneticist for evaluation and pre-test counselling.

Limitations

  • Only the FIG4 gene is analysed; variants in other CMT-related genes may not be detected.
  • Large deletions, duplications or deep intronic variants may not be covered by this NGS test.
  • A negative result does not completely exclude the possibility of CMT4J caused by variants not detected by this method.
  • Genetic variants of uncertain significance may be reported and require further evaluation.

Risks & Considerations

  • Minimal discomfort during blood collection
  • Small risk of bruising or bleeding at venipuncture site
  • No serious genetic testing risks

Interfering Factors

  • Poor DNA quality or quantity
  • Contamination of sample with another person's DNA
  • Variant outside the region being analysed
  • Clinical misclassification or incomplete family history

Compare With Similar Tests

TestGene CMT4J NGS Genetic TestCMT NGS PanelFIG4 Sanger Sequencing
ComparisonGene CMT4J NGS Genetic Test

Frequently Asked Questions

What is the cost of the FIG4 Gene CMT4J NGS Genetic Test?
The cost is INR 20,000 at DNA Labs India. The price includes home sample collection in select cities.
What sample type is needed for this test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for the test.
Do I need to fast before the CMT4J genetic test?
No, fasting is not required.
How long does it take to get results?
The report is generally available in 3 to 4 weeks after the sample is received.
What is CMT4J?
CMT4J is a rare subtype of Charcot-Marie-Tooth disease caused by mutations in the FIG4 gene, leading to peripheral nerve damage.
Who should take this test?
It may be considered for individuals with clinical or electrophysiological features of inherited neuropathy, a family history of CMT4J, or a known FIG4 variant in the family.
How is the test performed?
The lab uses Next-Generation Sequencing (NGS) technology on DNA extracted from the sample to analyze the FIG4 gene.
What does a negative result mean?
A negative result means no pathogenic or likely pathogenic variant was detected in the tested regions of FIG4. It does not rule out all genetic causes of CMT.
What does a positive result mean?
A positive result indicates detection of a pathogenic or likely pathogenic FIG4 variant, which supports the diagnosis of CMT4J in the appropriate clinical context.
Will I need genetic counselling?
Yes, genetic counselling is recommended before and after testing to discuss risks, benefits, inheritance, and implications for family members.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India for this test.
Can this test be used for family planning?
Yes, after genetic confirmation in the family, carrier testing or reproductive genetic counseling may be discussed with a geneticist.
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.

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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.

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