EARS2 Gene Combined oxidative phosphorylation deficiency type 12 NGS Genetic Test
Short Name: EARS2 Gene COXPD Type 12 NGS Test
Also known as: EARS2 Gene Mutation Test, COXPD Type 12 Genetic Test, Mitochondrial Glutamyl-tRNA Synthetase Deficiency Test, EARS2 NGS Panel, Combined Oxidative Phosphorylation Deficiency 12 DNA Test
EARS2 Gene Combined oxidative phosphorylation deficiency type 12 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation of Pathogenic Variants, Bioinformatics Variant Annotation 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. Urgent cases may be accommodated upon prior arrangement with 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 EARS2 Gene COXPD Type 12 NGS Genetic Test is to identify pathogenic mutations in the EARS2 gene responsible for combined oxidative phosphorylation deficiency type 12. This test enables confirmation of clinical diagnosis in symptomatic individuals, guides metabolic and supportive treatment decisions, facilitates carrier testing for family members, and assists in reproductive planning and prenatal diagnosis for at-risk families. It is also valuable for differentiating COXPD12 from other mitochondrial and metabolic disorders presenting with similar clinical features.
- Test Code
- 1937
- CPT Code
- 81479
- ICD Code
- E88.89
- 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. Urgent cases may be accommodated upon prior arrangement with the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation of Pathogenic Variants, Bioinformatics Variant Annotation
Sample Collection
No fasting is required. Provide complete clinical history and pedigree information of affected family members. A pre-test genetic counselling session is strongly recommended. Avoid blood transfusions for at least 4 weeks before sample collection.
Method: Venipuncture or FTA card finger-prick
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of peripheral venous blood in an EDTA (lavender-top) vacutainer. Alternatively, one drop of blood on an FTA card or an extracted DNA sample may be submitted. The procedure takes approximately 5-10 minutes.
Report Delivery
The sample is labelled, stored at ambient room temperature, and transported to the DNA Labs India laboratory under controlled conditions. No post-collection restrictions are required. Results are delivered within 3 to 4 weeks via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Urgent cases may be accommodated upon prior arrangement with the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the EARS2 Gene COXPD Type 12 NGS Genetic Test is to identify pathogenic mutations in the EARS2 gene responsible for combined oxidative phosphorylation deficiency type 12. This test enables confirmation of clinical diagnosis in symptomatic individuals, guides metabolic and supportive treatment decisions, facilitates carrier testing for family members, and assists in reproductive planning and prenatal diagnosis for at-risk families. It is also valuable for differentiating COXPD12 from other mitochondrial and metabolic disorders presenting with similar clinical features.
How to Prepare
- Use an EDTA (lavender-top) vacutainer for blood collection.
- Do not use heparin tubes, as heparin can interfere with downstream molecular assays.
- Label the sample clearly with patient name, date of birth, and unique identification number.
- If using an FTA card, ensure one complete blood drop saturates the designated area and allow it to dry completely.
- Store the sample at ambient room temperature (15-30°C) and transport within 48 hours of collection.
- Free home sample collection is available across India for online bookings.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"COXPD type 12 is an ultra-rare mitochondrial disorder caused by biallelic mutations in the EARS2 gene. Early genetic confirmation through NGS allows accurate diagnosis, appropriate metabolic management, genetic counselling for families, and informed reproductive planning. I recommend this test for any infant or child presenting with unexplained leukoencephalopathy, lactic acidosis, hypotonia, or developmental regression, particularly when mitochondrial disease is suspected. Timely diagnosis can guide supportive care and prevent unnecessary investigations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparin anticoagulant tube
- Haemolysed or visibly contaminated blood sample
- Insufficient sample volume (less than 1 mL for blood)
- Unlabelled or mislabelled samples
- Sample collected more than 7 days prior without refrigeration
- DNA sample with A260/A280 ratio outside 1.7-2.0 range
Understanding Your Results
No pathogenic or likely pathogenic variants were identified in the EARS2 gene. This result does not entirely exclude COXPD12 if clinical suspicion remains high; other mitochondrial or nuclear genes may be involved. Further clinical evaluation and additional genetic testing may be considered.
A homozygous pathogenic variant was identified in the EARS2 gene, consistent with a diagnosis of COXPD type 12. Both parents are expected to be carriers. Genetic counselling and carrier testing for family members is recommended.
Two different pathogenic or likely pathogenic variants were identified in the EARS2 gene on opposite alleles, consistent with a diagnosis of COXPD type 12. Each parent is expected to carry one variant. Carrier testing for family members and reproductive counselling is recommended.
A single pathogenic variant was detected in the EARS2 gene. The individual is likely a carrier of COXPD type 12 and is typically unaffected. Carrier testing of the partner is recommended for reproductive planning.
A variant of uncertain significance was identified. Current evidence is insufficient to classify this variant as pathogenic or benign. Familial segregation analysis, functional studies, and periodic re-evaluation as new data become available are recommended. Clinical correlation is essential.
Consult a geneticist or metabolic specialist if your child presents with unexplained developmental delay, hypotonia, seizures, feeding difficulties, lactic acidosis, or neurological regression. If the test result identifies a pathogenic variant or a variant of uncertain significance, seek genetic counselling for interpretation, family screening, and reproductive planning. Early consultation allows timely supportive management and may prevent unnecessary diagnostic investigations.
Limitations
- ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic mutations beyond flanking splice sites unless specifically included.
- ⚠Variants of uncertain significance may be identified and may require further familial segregation studies or functional analysis.
- ⚠A negative result does not completely exclude mitochondrial disease, as other genes or mitochondrial DNA variants may be causative.
- ⚠Results should always be interpreted in conjunction with clinical presentation, biochemical findings, and neuroimaging by a qualified geneticist or metabolic specialist.
- ⚠This test is not validated for prenatal diagnosis from chorionic villus sampling or amniotic fluid without prior validation.
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the blood draw site
- ●No significant medical risks associated with the blood collection procedure
- ●Emotional impact of genetic results; genetic counselling is recommended before and after testing
Interfering Factors
- ●Degraded or insufficient DNA quality in the submitted sample
- ●Recent blood transfusion within the past 4 weeks may affect variant detection
- ●Sample contamination during collection or transport
- ●Heparin-based anticoagulant in the sample tube (EDTA is preferred)
Compare With Similar Tests
| Test | EARS2 Gene Combined oxidative phosphorylation deficiency type 12 NGS Genetic Test | Single Gene Sanger Sequencing | Mitochondrial DNA Sequencing | Biochemical Enzyme Assay |
|---|---|---|---|---|
| Comparison | EARS2 Gene Combined oxidative phosphorylation deficiency type 12 NGS Genetic Test |
Frequently Asked Questions
What is the EARS2 Gene COXPD Type 12 NGS Genetic Test?
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What is a Variant of Uncertain Significance (VUS)?
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