LRPPRC Gene Leigh syndrome, French-Canadian type NGS Genetic Test
Short Name: LRPPRC Leigh Syndrome NGS
Also known as: LRPPRC Gene Mutation Analysis, Leigh Syndrome French-Canadian Type NGS, LRPPRC Sequencing
LRPPRC Gene Leigh syndrome, French-Canadian type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation (if required) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The test results will be available within 3 to 4 weeks from the time the sample reaches our laboratory. Reports will include the clinical interpretation and raw data files.. 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 this test is to confirm the clinical diagnosis of Leigh syndrome (French-Canadian type) by identifying pathogenic mutations in the LRPPRC gene. It is used for diagnostic confirmation, carrier testing in at-risk family members, and to facilitate genetic counselling and prenatal decision-making.
- Test Code
- 4187
- ICD Code
- G31.81
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The test results will be available within 3 to 4 weeks from the time the sample reaches our laboratory. Reports will include the clinical interpretation and raw data files.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger confirmation (if required)
Sample Collection
No fasting required. A clinical history and genetic counselling session is recommended before the test. Please carry any previous genetic test reports, if available.
Method: Venipuncture / FTA card blood spot
Laboratory Analysis
Blood sample is collected by phlebotomy or a drop of blood is applied on the FTA card. The sample is labelled and transported as per guidelines.
Report Delivery
The sample is sent to the laboratory for DNA extraction and NGS analysis. Results will be provided in 3 to 4 weeks.
Timeline: The test results will be available within 3 to 4 weeks from the time the sample reaches our laboratory. Reports will include the clinical interpretation and raw data files.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm the clinical diagnosis of Leigh syndrome (French-Canadian type) by identifying pathogenic mutations in the LRPPRC gene. It is used for diagnostic confirmation, carrier testing in at-risk family members, and to facilitate genetic counselling and prenatal decision-making.
How to Prepare
- No special preparation is needed for this test.
- A genetic counselling session to draw a pedigree chart is recommended before testing.
- Ensure proper identification and labelling of the sample.
- For FTA card, dispense one drop of blood onto the marked circle and air-dry before sealing.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Leigh syndrome is a severe mitochondrial disorder with significant recurrence risk. Genetic counselling is essential to explain the autosomal recessive inheritance pattern (except for X-linked or mitochondrial forms) and to discuss reproductive options. Obstetricians play a key role in prenatal counselling and testing for families at risk."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient amount of sample
- Improperly labelled or unlabelled sample
- Sample received in inappropriate container
Understanding Your Results
Confirms the diagnosis of French-Canadian type Leigh syndrome. Autosomal recessive inheritance is expected. Genetic counselling and family screening are recommended.
LRPPRC-related Leigh syndrome is less likely. Other nuclear or mitochondrial genes should be considered. Clinical correlation remains essential.
The variant is not currently classified as disease-causing. Further family studies and functional analysis may help clarify its role. Consult a genetic specialist.
If your child exhibits developmental delay, seizures, muscle weakness, unexplained respiratory distress, or failure to thrive, consult a pediatric neurologist or clinical geneticist for evaluation.
Limitations
- ⚠This test detects mutations in the coding regions and splice sites of the LRPPRC gene. It may not detect deep intronic mutations, large gene rearrangements, or mitochondrial DNA mutations.
- ⚠A negative result does not completely exclude Leigh syndrome, as mutations in other nuclear or mitochondrial genes can also cause the condition.
- ⚠Variant of uncertain significance may require further family studies.
- ⚠Genetic counselling is recommended to interpret all results.
Risks & Considerations
- ●Minor pain or bruising at the blood collection site
- ●Excessive bleeding or infection at the puncture site (rare)
- ●No risks associated with FTA card blood spot
Interfering Factors
- ●Contamination of sample with another DNA source
- ●Insufficient DNA quantity or quality
- ●Inappropriate handling causing sample degradation
- ●Presence of interfering substances in blood (e.g., high lipids)
- ●Maternal cell contamination in prenatal samples
Compare With Similar Tests
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| Comparison | LRPPRC Gene Leigh syndrome, French-Canadian type NGS Genetic Test |
Frequently Asked Questions
What is the cost of the LRPPRC gene Leigh syndrome French-Canadian type NGS genetic test at DNA Labs India?
What sample is required for this test?
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Does this test require fasting?
Can the sample be collected at home?
What does the NGS genetic test detect?
Will I receive the raw data and sequence files?
Is genetic counselling needed before this test?
Does a negative result completely rule out Leigh syndrome?
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