FARS2 Gene Combined oxidative phosphorylation deficiency type 14 NGS Genetic Test
Short Name: FARS2 Gene NGS Test
FARS2 Gene Combined oxidative phosphorylation deficiency type 14 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 Results available in 3 to 4 weeks after sample receipt.. 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
To identify mutations in the FARS2 gene responsible for combined oxidative phosphorylation deficiency type 14, aiding in diagnosis and management.
- Test Code
- 1936
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results available in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Provide detailed clinical history and family history of genetic disorders.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample will be collected via venipuncture or finger-prick under standard procedures.
Report Delivery
Apply pressure to the puncture site to prevent bleeding and ensure proper healing.
Timeline: Results available in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the FARS2 gene responsible for combined oxidative phosphorylation deficiency type 14, aiding in diagnosis and management.
How to Prepare
- Ensure proper patient identification and labeling
- Label sample correctly with patient details
- Transport sample at ambient temperature in appropriate container
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing FARS2 gene mutations, which can guide treatment and family planning for affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient volume
- Incorrect labeling or container
Understanding Your Results
Pathogenic mutation detected
Confirms diagnosis of Combined Oxidative Phosphorylation Deficiency Type 14. Consult genetic counselor for management and family planning.
No pathogenic mutation detected
Does not rule out other genetic causes. Clinical correlation and additional testing may be advised.
If symptoms such as muscle weakness, developmental delay, or seizures persist, or if there is a family history of similar conditions, consult a geneticist or specialist.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require clinical correlation
- ⚠Cannot rule out other genetic conditions
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Potential psychological impact from test results
Interfering Factors
- ●Contaminated sample
- ●Insufficient DNA quality
- ●Technical errors during sequencing
Compare With Similar Tests
| Test | FARS2 Gene Combined oxidative phosphorylation deficiency type 14 NGS Genetic Test | Whole Exome Sequencing | Mitochondrial DNA Sequencing |
|---|---|---|---|
| Comparison | FARS2 Gene Combined oxidative phosphorylation deficiency type 14 NGS Genetic Test | Covers all genes, more comprehensive but higher cost and longer turnaround. | Focuses on mitochondrial genes only, may miss nuclear gene mutations like FARS2. |
Frequently Asked Questions
What is FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14?
What are the common symptoms of this condition?
How is the FARS2 Gene NGS Genetic Test performed?
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Is home sample collection available for this test?
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