AIFM1 Gene CMTX4 NGS Genetic Test
Short Name: AIFM1 CMTX4 NGS
Also known as: AIFM1 Gene Mutation Analysis, CMTX4 Genetic Test, AIFM1 NGS Genetic Test
AIFM1 Gene CMTX4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Reports are delivered within 3 to 4 weeks of sample receipt. The time allows for DNA extraction, sequencing, bioinformatics analysis, variant interpretation, and clinical review.. 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
To detect pathogenic or likely pathogenic mutations in the AIFM1 gene associated with CMTX4, confirm a clinical diagnosis, guide medical management, and provide recurrence-risk information for affected families.
- Test Code
- 3975
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Reports are delivered within 3 to 4 weeks of sample receipt. The time allows for DNA extraction, sequencing, bioinformatics analysis, variant interpretation, and clinical review.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counseling session is recommended before testing to review personal and family history and to create a pedigree chart.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected from a vein in the arm. The procedure is quick and usually takes less than 10 minutes.
Report Delivery
No special precautions are required. Mild soreness or bruising at the needle site may occur but usually resolves quickly.
Timeline: Reports are delivered within 3 to 4 weeks of sample receipt. The time allows for DNA extraction, sequencing, bioinformatics analysis, variant interpretation, and clinical review.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic or likely pathogenic mutations in the AIFM1 gene associated with CMTX4, confirm a clinical diagnosis, guide medical management, and provide recurrence-risk information for affected families.
How to Prepare
- No fasting required
- A genetic counseling session and informed consent are required before sample collection
- Please carry a valid doctor prescription or referral if available
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A confirmed molecular diagnosis in CMTX4 can guide neurologists in surveillance, management, and family counseling. Genetic testing should be performed in the context of clinical findings and a detailed family pedigree."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Incorrectly labeled sample
- Insufficient sample quantity
- Sample received outside the acceptable stability window
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant was identified in the AIFM1 gene. A negative result does not fully exclude a genetic cause, as other genes may be responsible.
Positive
A pathogenic or likely pathogenic variant in the AIFM1 gene was identified, consistent with a diagnosis of CMTX4.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is unclear. Additional family testing or functional studies may be recommended.
If you or a family member have progressive muscle weakness, sensory loss, or foot deformities suggestive of peripheral neuropathy, consult a neurologist or clinical geneticist for evaluation and personalized guidance.
Limitations
- ⚠This test analyzes only the AIFM1 gene; other CMT-related genes are not evaluated.
- ⚠Large structural rearrangements or deep intronic variants may not be detected by standard NGS.
- ⚠A Variant of Uncertain Significance (VUS) may require additional family studies for interpretation.
Risks & Considerations
- ●Minor risks of blood collection including pain, bruising, or lightheadedness
- ●Potential psychological impact of receiving genetic test results
- ●Possible implications for blood-related family members
Interfering Factors
- ●Insufficient or degraded DNA
- ●Sample mix-up or mislabeling
- ●Low-level mosaicism
- ●Maternal cell contamination
Compare With Similar Tests
| Test | AIFM1 Gene CMTX4 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | AIFM1 Gene CMTX4 NGS Genetic Test |
Frequently Asked Questions
What is the AIFM1 Gene CMTX4 NGS Genetic Test?
What is CMTX4?
Who should get this test?
Do I need to fast before the test?
How is the sample collected?
How long does the test take?
What is the cost of the test?
Does the price include genetic counseling?
Can this test detect all types of Charcot-Marie-Tooth disease?
What does a positive or negative result mean?
Is home sample collection available?
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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.
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