DYNC1H1 Gene Charcot-Marie-Tooth Disease, Axonal Type 20 NGS Genetic Test
Short Name: DYNC1H1 CMT20 NGS
Also known as: DYNC1H1 CMT20 Genetic Test, Axonal CMT Type 20 NGS Panel, Charcot-Marie-Tooth Neuropathy Type 20 Gene Test
DYNC1H1 Gene Charcot-Marie-Tooth Disease, Axonal Type 20 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Sample received in lab → DNA extraction and quality control → NGS library preparation and sequencing → bioinformatics analysis and variant interpretation → clinical report. Total time: 3 to 4 weeks.. 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 this test is to identify a pathogenic DYNC1H1 gene variant in symptomatic patients and at-risk family members, helping confirm the clinical diagnosis of Charcot-Marie-Tooth axonal type 20 and guide genetic counseling, reproductive options, and neurological management.
- Test Code
- 3956
- ICD Code
- G60.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Sample received in lab → DNA extraction and quality control → NGS library preparation and sequencing → bioinformatics analysis and variant interpretation → clinical report. Total time: 3 to 4 weeks.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing
Sample Collection
No fasting is required. Please ensure the sample is collected at a DNA Labs India approved centre or by our phlebotomist during home collection. Carry your prescription and identification document.
Method: Blood draw or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample in an EDTA vacutainer, or a drop of blood on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities. The sample will be transported to the laboratory under appropriate storage conditions.
Timeline: Sample received in lab → DNA extraction and quality control → NGS library preparation and sequencing → bioinformatics analysis and variant interpretation → clinical report. Total time: 3 to 4 weeks.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify a pathogenic DYNC1H1 gene variant in symptomatic patients and at-risk family members, helping confirm the clinical diagnosis of Charcot-Marie-Tooth axonal type 20 and guide genetic counseling, reproductive options, and neurological management.
How to Prepare
- Collect blood in an EDTA vacutainer.
- Impregnate FTA card with a single drop of blood, ensuring it is completely air-dried.
- Store extracted DNA at 2-8°C for short-term or at -20°C for long-term.
- Label each sample with patient name, date, and unique identifier.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for CMT provides definitive molecular diagnosis and enables inheritance counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood
- Inadequate volume
- Improperly labelled sample
- Leaked or contaminated FTA card
Understanding Your Results
Positive – Pathogenic variant detected
Confirms diagnosis of Charcot-Marie-Tooth axonal type 20; genetic counseling recommended.
Negative – No pathogenic variant detected
Does not exclude hereditary neuropathy; other genetic causes may be considered.
Variant of Uncertain Significance (VUS)
Further family studies and functional analysis may be needed.
If you experience unexplained muscle weakness, walking difficulty, or sensory loss, or if you have a family history of Charcot-Marie-Tooth disease, consult a neurologist or genetic counselor for further evaluation.
Limitations
- ⚠Targeted test detects only DYNC1H1 gene variants; other CMT genes are not analyzed.
- ⚠Large genomic rearrangements (duplications/deletions) in DYNC1H1 may not be detected by standard NGS.
- ⚠Variant of unknown significance may require additional family studies.
Risks & Considerations
- ●Bruising or minor bleeding at venipuncture site
- ●No additional health risks from genetic testing
Interfering Factors
- ●Poor DNA quality due to extended transit time
- ●Maternal cell contamination in prenatal specimens
Frequently Asked Questions
What is Charcot-Marie-Tooth disease axonal type 20?
What is the DYNC1H1 gene?
Who should undergo this test?
What is the cost of the test?
What kind of sample is needed?
Do I need to fast before the test?
How long does it take to get the report?
Does this test detect all types of Charcot-Marie-Tooth disease?
What does a positive result mean?
What is the accuracy of NGS testing?
Is this test covered by insurance?
Will I receive genetic counseling?
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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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