COX6A1 Gene CMTRID NGS Genetic Test
Short Name: COX6A1 NGS Test
Also known as: COX6A1 Gene Mutation Analysis, CMTRID NGS Testing, Charcot-Marie-Tooth Type D Genetic Test
COX6A1 Gene CMTRID 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 for the COX6A1 Gene CMTRID NGS Genetic Test are usually delivered within 3 to 4 weeks after the sample reaches our laboratory. A detailed report with variant interpretation and clinical significance will be shared via email/portal. Your referring doctor will also receive a copy.. 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 this test is to detect pathogenic mutations in the COX6A1 gene to confirm a clinical diagnosis of CMTRID. It supports medical management, helps in carrier detection, and provides critical information for family genetic counseling and risk assessment.
- Test Code
- 3973
- 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
- Reports for the COX6A1 Gene CMTRID NGS Genetic Test are usually delivered within 3 to 4 weeks after the sample reaches our laboratory. A detailed report with variant interpretation and clinical significance will be shared via email/portal. Your referring doctor will also receive a copy.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required for this test. Patients are advised to provide their complete clinical history, including symptoms, onset, family pedigree, and prior investigations. A genetic counseling session is recommended prior to sample collection to understand the purpose, implications, and limitations of the test.
Method: Peripheral Venipuncture / Dried Blood Spot
Laboratory Analysis
For blood collection, a qualified phlebotomist will draw a venous blood sample (3-5 ml) using a sterile EDTA vacutainer. For FTA card collection, a few drops of blood from a finger prick or heel prick will be placed on the designated spots and allowed to air dry.
Report Delivery
After collection, the sample should be labeled correctly and transported to the testing laboratory as soon as possible. For FTA cards, ensure the card is completely dry before packaging. There are no activity restrictions after the blood draw.
Timeline: Reports for the COX6A1 Gene CMTRID NGS Genetic Test are usually delivered within 3 to 4 weeks after the sample reaches our laboratory. A detailed report with variant interpretation and clinical significance will be shared via email/portal. Your referring doctor will also receive a copy.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to detect pathogenic mutations in the COX6A1 gene to confirm a clinical diagnosis of CMTRID. It supports medical management, helps in carrier detection, and provides critical information for family genetic counseling and risk assessment.
How to Prepare
- Use an EDTA vacutainer for whole blood collection.
- For FTA cards, apply only the required number of blood spots and avoid over-saturation.
- Label the sample with patient name, date of birth, and unique ID.
- Maintain the sample at room temperature if shipped within 24 hours; refrigerate if longer.
- Ship the sample to the laboratory in a biohazard bag with proper padding.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for COX6A1 mutations is crucial for families with a history of Charcot-Marie-Tooth disease, enabling early diagnosis and informed family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Improperly labeled or unlabeled sample
- Leaked sample during transit
- FTA card with visible contamination or overloading
Understanding Your Results
Pathogenic variant detected
Confirms the genetic basis of CMTRID. The patient is affected and appropriate management and surveillance should be initiated.
No pathogenic variant detected
No disease-causing mutation identified in COX6A1 gene. This does not exclude CMTRID, as mutations may exist in other genes.
Variants of uncertain significance (VUS)
A DNA change of unknown clinical significance was identified. Additional family studies or functional data may be needed to clarify its role.
Carrier (heterozygous) for autosomal recessive mutation
One pathogenic variant detected in an autosomal recessive gene; the patient is an asymptomatic carrier. If both parents are carriers, each child has a 25% risk of being affected.
A physician should be consulted if you have any signs of peripheral neuropathy, muscle weakness, or a family history of Charcot-Marie-Tooth disease. Genetic testing and counseling are strongly recommended for at-risk individuals and families planning children.
Limitations
- ⚠This test analyzes the COX6A1 gene only; mutations in other genes associated with CMT will not be detected.
- ⚠Non-coding deeper intronic variants, promoter changes, and large structural rearrangements may not be identified by standard NGS analysis.
- ⚠Variants of unknown significance (VUS) may be reported and require further familial segregation studies.
- ⚠Clinical diagnosis should always be correlated with the genetic test result.
Risks & Considerations
- ●Minimal risk of bleeding or bruising at the site of needle insertion
- ●Rare risk of infection (extremely low with sterile protocols)
- ●Emotional or psychological distress upon receiving results
- ●Possible detection of variants of uncertain significance (VUS)
Interfering Factors
- ●Sample degradation due to prolonged storage at room temperature
- ●Contamination of blood sample during collection
- ●Failed PCR amplification due to inhibitors
- ●Low DNA yield from FTA cards
Compare With Similar Tests
| Test | COX6A1 Gene CMTRID NGS Genetic Test | CMT Comprehensive NGS Panel | Whole Exome Sequencing (WES) | COX6A1 Sanger Sequencing |
|---|---|---|---|---|
| Comparison | COX6A1 Gene CMTRID NGS Genetic Test |
Frequently Asked Questions
What is the COX6A1 gene?
What does CMTRID mean?
How accurate is NGS testing for COX6A1 mutations?
What is the turnaround time for this test?
What are the symptoms of COX6A1 gene mutations?
Is a blood sample sufficient for the test?
Do I need genetic counseling before the test?
What is the cost of the test?
Will this test detect all types of Charcot-Marie-Tooth disease?
Can this test be done on a newborn?
What does a 'variant of uncertain significance' (VUS) mean?
How do I book this test from outside India?
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