RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive NGS Genetic Test
Short Name: RNASEH1 Gene PEO NGS Test
Also known as: RNASEH1-related PEO NGS genetic test, PEO type 2 NGS test, Progressive external ophthalmoplegia mitochondrial deletions NGS test
RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive 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 are available in 3 to 4 weeks after the sample is received 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
To detect pathogenic variants in the RNASEH1 gene associated with progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive.
- Test Code
- 4490
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are available in 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Please carry a valid government ID and provide the patient's clinical history. A genetic counselling session may be arranged to draw a family pedigree.
Method: Venipuncture or FTA card spot
Laboratory Analysis
For blood samples, a trained phlebotomist will collect blood in the appropriate collection tube. For FTA card samples, a single drop of blood is applied to the marked area on the card.
Report Delivery
You can resume normal activities immediately. The sample will be transported to the laboratory for DNA extraction and NGS analysis.
Timeline: Results are available in 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the RNASEH1 gene associated with progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive.
How to Prepare
- No special preparation is needed before sample collection.
- Inform the laboratory about any known diagnosis of mitochondrial disease in the family.
- Ensure the consent form is signed and the patient's clinical details are accurately recorded.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NGS-based confirmation of RNASEH1 variants is essential in patients with unexplained progressive external ophthalmoplegia because clinical features overlap with other mitochondrial myopathies. Early molecular diagnosis can guide surveillance for cardiac and neurological complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Insufficient DNA quantity for NGS analysis
- Mislabeled sample or incomplete patient details
Understanding Your Results
No pathogenic variant detected
Negative result. No molecular evidence of RNASEH1-related PEO was found.
Action: Consider testing other nuclear genes or mitochondrial DNA if clinical suspicion is high.
Single heterozygous pathogenic variant
Carrier state for autosomal recessive PEO; not expected to cause disease in the absence of a second variant.
Action: Further analysis for a second variant and parental testing may be advised.
Two pathogenic variants (homozygous or compound heterozygous)
Confirmatory molecular diagnosis of RNASEH1-related PEO type 2.
Action: Initiate multidisciplinary management and offer genetic counselling to at-risk family members.
Variant of uncertain significance
Not sufficient to confirm or exclude the diagnosis.
Action: Additional functional studies, segregation analysis, or reclassification may be needed.
Consult a neurologist or medical geneticist if you have unexplained bilateral ptosis, ophthalmoplegia, proximal muscle weakness, elevated resting lactate, or a family history of mitochondrial myopathy.
Limitations
- ⚠NGS may not detect large structural rearrangements or deep intronic variants in all cases.
- ⚠A negative result does not completely exclude a mitochondrial disorder.
- ⚠Variants of uncertain significance may require additional family studies or functional testing.
- ⚠This test does not replace a comprehensive mitochondrial genome analysis.
Risks & Considerations
- ●Mild pain or bruising at the blood draw site
- ●No significant medical risk associated with genetic testing itself
- ●Potential psychological impact of receiving genetic results
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination with other DNA
- ●Sequence variants in highly homologous genomic regions
- ●Incorrect sample labelling or incomplete clinical information
Compare With Similar Tests
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| Comparison | RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive NGS Genetic Test |
Frequently Asked Questions
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