MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test
Short Name: MTMR14 CNM Type 1 NGS Test
Also known as: MTMR14 Gene Test, Centronuclear Myopathy Type 1 Genetic Test, CNM1 NGS Test, Myotubular Myopathy Genetic Test, MTMR14 Mutation Analysis
MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from date of sample receipt at the laboratory. 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 MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test is performed to confirm a molecular diagnosis of centronuclear myopathy type 1 in individuals presenting with clinical features of the disorder. This test identifies mutations in the MTMR14 gene that cause defective muscle cell development and maintenance, leading to the characteristic centronuclear morphology observed in muscle fibres. The test serves multiple purposes: diagnostic confirmation in symptomatic individuals, identification of carriers within affected families, family screening and genetic counselling, prenatal or preconception testing in at-risk pregnancies, and informing personalised management strategies including respiratory monitoring, physiotherapy, and long-term care planning.
- Test Code
- 1544
- CPT Code
- 81479
- ICD Code
- G71.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from date of sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing
Sample Collection
Genetic counselling is strongly recommended before sample collection to discuss the implications, benefits, and limitations of genetic testing. A detailed clinical history of the patient and a pedigree chart of family members affected with centronuclear myopathy type 1 should be prepared. No fasting or special preparation is required. Inform the laboratory about any recent blood transfusions or bone marrow transplants.
Method: Venipuncture or FTA Card Blood Spot
Laboratory Analysis
A blood sample of 3-5 mL is collected via standard venipuncture into an EDTA (purple-top) vacutainer. Alternatively, one drop of blood can be placed directly on the provided FTA card. The sample is clearly labelled with patient identification details and transported at ambient room temperature to the testing laboratory.
Report Delivery
After sample collection, the patient can resume normal activities immediately. The blood sample undergoes DNA extraction followed by next-generation sequencing analysis. Results are typically available within 3 to 4 weeks. A follow-up genetic counselling session is strongly recommended to interpret the results, discuss clinical implications, and plan further management or family screening.
Timeline: 3 to 4 Weeks from date of sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test is performed to confirm a molecular diagnosis of centronuclear myopathy type 1 in individuals presenting with clinical features of the disorder. This test identifies mutations in the MTMR14 gene that cause defective muscle cell development and maintenance, leading to the characteristic centronuclear morphology observed in muscle fibres. The test serves multiple purposes: diagnostic confirmation in symptomatic individuals, identification of carriers within affected families, family screening and genetic counselling, prenatal or preconception testing in at-risk pregnancies, and informing personalised management strategies including respiratory monitoring, physiotherapy, and long-term care planning.
How to Prepare
- Ensure the patient or guardian has provided written informed consent for genetic testing
- Collect 3-5 mL of venous blood in an EDTA (purple-top) vacutainer using aseptic technique
- Alternatively, place one drop of blood on the provided FTA card and allow it to dry completely
- Label the sample clearly with patient full name, date of birth, unique sample ID, and date of collection
- Transport the sample at ambient room temperature (15-30°C). Do not freeze or expose to extreme heat
- Include the completed test requisition form with clinical history and consent documentation
- Ship the sample to DNA Labs India using the provided sample transport kit
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an obstetrician and genetic counsellor, I recommend MTMR14 gene testing for couples with a family history of centronuclear myopathy who are planning a pregnancy. Prenatal or preconception carrier testing provides crucial information for informed reproductive decisions. Early molecular diagnosis also enables timely neonatal management planning when centronuclear myopathy is suspected in the family."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume (less than 2 mL of EDTA blood)
- Unlabelled or mislabelled sample with mismatched patient identification
- Sample received without a completed requisition form or clinical history
- Sample collected in an incorrect container (non-EDTA tube such as heparin or plain tube)
- Severely degraded sample due to improper storage or prolonged transit beyond stability period
- Sample contaminated or compromised during transport
Understanding Your Results
Pathogenic Variant(s) Detected
Confirms a molecular diagnosis of centronuclear myopathy type 1. The identified mutation(s) in the MTMR14 gene are known to cause the disease. Genetic counselling for the patient and family members is recommended. Family screening and carrier testing should be offered to at-risk relatives.
Likely Pathogenic Variant(s) Detected
Strong evidence suggests the identified variant(s) are disease-causing, although they may not yet have been extensively reported in medical literature. Clinical correlation with symptoms and family segregation studies may help confirm the diagnosis.
Variant(s) of Uncertain Significance (VUS) Detected
A genetic change was identified in the MTMR14 gene, but current evidence is insufficient to determine whether it causes centronuclear myopathy. Further testing of family members, functional studies, and clinical follow-up are recommended. The variant should be reassessed periodically as new data becomes available.
Likely Benign or Benign Variant(s) Detected
The identified variant(s) are unlikely to be associated with centronuclear myopathy type 1. These are considered normal genetic variations. Clinical correlation is advised if symptoms persist, and testing for other associated genes may be considered.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the MTMR14 gene using NGS analysis. This result does not completely rule out centronuclear myopathy, as the condition may be caused by mutations in other genes (such as RYR1, DNM2, BIN1, or TTN), large structural variants not detectable by this method, or mutations in non-coding regulatory regions. Clinical correlation and further diagnostic evaluation may be warranted.
Consult a neurologist or clinical geneticist if your test results indicate a pathogenic or likely pathogenic variant in the MTMR14 gene, if a variant of uncertain significance (VUS) is identified, or if clinical symptoms of muscle weakness persist despite a negative genetic test result. Early specialist consultation enables timely management interventions including respiratory monitoring, physiotherapy, occupational therapy, and genetic counselling for family planning and reproductive decision-making.
Limitations
- ⚠This test may not detect large genomic deletions, duplications, or complex structural variants in the MTMR14 gene
- ⚠Deep intronic mutations, regulatory region variants, and promoter mutations may not be identified
- ⚠A negative result does not completely exclude centronuclear myopathy if caused by mutations in other genes such as RYR1, DNM2, BIN1, or TTN
- ⚠Variants of uncertain significance (VUS) may be identified and may require further investigation including family segregation studies
- ⚠Low-level mosaicism below the analytical sensitivity threshold of NGS may not be detected
- ⚠This test does not assess mitochondrial DNA variants
Risks & Considerations
- ●Minimal risk associated with blood draw, including slight bruising, discomfort, or swelling at the needle insertion site
- ●Rare risk of infection at the venipuncture site, which is minimised by standard aseptic collection technique
- ●Potential emotional or psychological impact of genetic test results; genetic counselling before and after testing is strongly recommended to support the patient and family
- ●Risk of incidental findings or variants of uncertain significance that may cause anxiety; counselling helps contextualise such findings
Interfering Factors
- ●Recent blood transfusion (within 4 weeks) may introduce donor DNA and affect analysis results
- ●Sample contamination during collection, handling, or transport
- ●Degraded DNA due to improper storage temperature or prolonged transit time
- ●Hemolysis of the blood sample may reduce DNA quality and yield
Compare With Similar Tests
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Frequently Asked Questions
What is the MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test?
What are the symptoms of Centronuclear Myopathy Type 1?
Who should get the MTMR14 Gene NGS Genetic Test?
What sample is required for the MTMR14 Gene NGS Genetic Test?
How long does it take to get the results of this genetic test?
What is the cost of the MTMR14 Gene NGS Genetic Test in India?
Is home sample collection available for this genetic test?
What does a positive (pathogenic variant detected) test result mean?
Can this test detect carrier status for centronuclear myopathy?
Is genetic counselling required before and after this test?
Does DNA Labs India provide raw data files with the test report?
Is the MTMR14 Gene NGS Genetic Test available across India?
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