MT-ATP8 Gene Cardiomyopathy, infantile hypertrophic, MT-ATP8 related NGS Genetic Test
Short Name: MT-ATP8 Cardiomyopathy NGS Test
Also known as: MT-ATP8 Gene Mutation Test, Infantile HCM Genetic Test, Mitochondrial ATP8 Cardiomyopathy Test, MT-ATP8 NGS Sequencing Test, Mitochondrial Cardiomyopathy Gene Panel
MT-ATP8 Gene Cardiomyopathy, infantile hypertrophic, MT-ATP8 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the 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 purpose of the MT-ATP8 Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the MT-ATP8 gene that are associated with infantile hypertrophic cardiomyopathy. This test aids in confirming a clinical diagnosis, differentiating MT-ATP8-related cardiomyopathy from other genetic and acquired forms of HCM, guiding treatment and management decisions, enabling carrier testing and family screening, and informing genetic counseling regarding recurrence risk and family planning options.
- Test Code
- 5247
- CPT Code
- 81404
- ICD Code
- I42.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required)
Sample Collection
A pre-test genetic counseling session is recommended to document the patient's clinical history and draw a detailed pedigree chart of family members affected with cardiomyopathy or related mitochondrial disorders. No fasting is required. Ensure the patient or guardian provides informed consent.
Method: Venipuncture or Finger Prick (FTA Card)
Laboratory Analysis
A venous blood sample (3-5 mL) is collected in an EDTA (lavender top) vacutainer. Alternatively, one drop of blood can be collected on an FTA card. The sample is labeled, sealed, and transported to the laboratory under appropriate cold chain conditions.
Report Delivery
The sample is processed in the molecular genetics laboratory where DNA is extracted and prepared for NGS. Results are typically available within 3 to 4 weeks. The clinical report, along with raw data files (FASTQ and VCF), will be shared with the patient or referring physician.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MT-ATP8 Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the MT-ATP8 gene that are associated with infantile hypertrophic cardiomyopathy. This test aids in confirming a clinical diagnosis, differentiating MT-ATP8-related cardiomyopathy from other genetic and acquired forms of HCM, guiding treatment and management decisions, enabling carrier testing and family screening, and informing genetic counseling regarding recurrence risk and family planning options.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer
- Alternatively, collect one drop of blood on an FTA card
- Label the sample clearly with patient name, date of birth, and sample ID
- Avoid hemolysis during blood collection
- Store the sample at 2-8°C and transport to the laboratory within 48 hours
- Do not freeze whole blood samples
- Ensure informed consent is signed before sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Infantile hypertrophic cardiomyopathy linked to MT-ATP8 mutations is a rare but clinically significant mitochondrial disorder. Early genetic diagnosis through NGS testing allows clinicians to initiate timely cardiac surveillance, tailor management strategies, and provide accurate genetic counseling to families. I recommend this test for any infant presenting with unexplained hypertrophic cardiomyopathy, especially when there is a maternal family history suggestive of mitochondrial inheritance. DNA Labs India provides raw sequencing data alongside the clinical report, which is invaluable for multidisciplinary case review."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample collected in incorrect anticoagulant (non-EDTA tube)
- Unlabeled or mislabeled samples
- Sample received beyond the stability window without prior arrangement
- Insufficient sample volume
- Missing or incomplete consent form
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the MT-ATP8 gene has been identified. This supports a diagnosis of MT-ATP8-related infantile hypertrophic cardiomyopathy. Genetic counseling and cardiac follow-up are recommended.
Likely Pathogenic Variant Detected
A variant with strong evidence of disease association has been found. Clinical correlation and family segregation studies are recommended for confirmation.
Variant of Uncertain Significance (VUS)
A variant has been identified that cannot be definitively classified with current evidence. Periodic reclassification is advised. Clinical management should be based on phenotype.
Likely Benign Variant Detected
A variant identified is unlikely to be disease-causing. Clinical correlation is advised.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the MT-ATP8 gene. This does not exclude other genetic or non-genetic causes of cardiomyopathy. Further genetic testing of additional genes may be considered.
Consult your cardiologist or clinical geneticist if your child presents with symptoms such as rapid breathing, fatigue, poor feeding, low blood pressure, enlarged heart, or irregular heartbeat. If a pathogenic or likely pathogenic variant is detected, seek immediate genetic counseling and cardiac follow-up. Families with a history of mitochondrial cardiomyopathy or sudden infantile cardiac events should consult a genetic specialist for risk assessment and family screening.
Limitations
- ⚠This test analyzes only the MT-ATP8 gene and does not cover other genes associated with hypertrophic cardiomyopathy
- ⚠Deep intronic variants and large structural rearrangements in mitochondrial DNA may not be fully detected
- ⚠Variants of uncertain significance (VUS) may be identified and may require periodic reclassification
- ⚠The test does not detect nuclear DNA mutations that may contribute to cardiomyopathy
- ⚠Low-level heteroplasmy below the analytical sensitivity threshold may not be detected
- ⚠Results should always be interpreted in conjunction with clinical findings and family history
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Very rare risk of infection at the venipuncture site
- ●Psychological impact of genetic results on the patient and family
- ●Possibility of identifying variants of uncertain significance (VUS) that may cause anxiety
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy
- ●Blood sample contamination during collection or transport
- ●Recent blood transfusion may affect mitochondrial DNA heteroplasmy assessment
- ●Hemolyzed samples may reduce DNA yield and quality
Compare With Similar Tests
| Test | MT-ATP8 Gene Cardiomyopathy, infantile hypertrophic, MT-ATP8 related NGS Genetic Test | Comprehensive HCM Gene Panel (NGS) | Whole Mitochondrial Genome Sequencing | Whole Exome Sequencing (WES) | MT-ATP6 Gene Cardiomyopathy NGS Test |
|---|---|---|---|---|---|
| Comparison | MT-ATP8 Gene Cardiomyopathy, infantile hypertrophic, MT-ATP8 related NGS Genetic Test |
Frequently Asked Questions
What is the MT-ATP8 Gene Cardiomyopathy NGS Genetic Test?
Who should get the MT-ATP8 Gene Cardiomyopathy NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
What is the cost of the MT-ATP8 Gene Cardiomyopathy NGS Genetic Test?
Is home sample collection available for this test?
What does a positive result mean?
Can this test detect all mutations in the MT-ATP8 gene?
Is genetic counseling required before taking this test?
Is this test covered by insurance or government health schemes?
What is the accuracy of NGS genetic testing for MT-ATP8?
Will I receive raw data files along with the clinical report?
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