PDSS2 Gene Coenzyme Q10 deficiency type 3 NGS Genetic Test
Short Name: PDSS2 Gene CoQ10 Deficiency Type 3 Test
Also known as: PDSS2 Gene Mutation Test, CoQ10 Deficiency Type 3 Genetic Test, PDSS2 Sequencing Test, Primary Coenzyme Q10 Deficiency Type 3 DNA Test, Decaprenyl Diphosphate Synthase Subunit 2 Gene Test
PDSS2 Gene Coenzyme Q10 deficiency type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatics Analysis, ACMG Variant Classification 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. Results are delivered via the online portal, email, and WhatsApp.. 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 primary purpose of this test is to identify pathogenic mutations in the PDSS2 gene that cause Coenzyme Q10 deficiency type 3. It enables confirmatory diagnosis in symptomatic patients, guides treatment decisions including CoQ10 supplementation therapy, facilitates carrier detection in family members, supports genetic counselling regarding recurrence risk, and aids in prenatal or preimplantation genetic diagnosis for at-risk families.
- Test Code
- 1567
- 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. Results are delivered via the online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatics Analysis, ACMG Variant Classification
Sample Collection
A pre-test genetic counselling session is recommended to understand test implications. Clinical history of the patient and a pedigree chart of affected family members should be prepared. Ensure patient identification details match on the requisition form and sample container.
Method: Venipuncture / FTA Card Finger Prick
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer. Alternatively, one drop of blood can be applied to an FTA card. The sample is labeled with patient details and stored at ambient room temperature.
Report Delivery
The blood sample is transported to the laboratory at ambient room temperature. DNA extraction is performed followed by NGS library preparation and sequencing. Results are reviewed by a clinical geneticist and a detailed clinical report is generated within 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results are delivered via the online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic mutations in the PDSS2 gene that cause Coenzyme Q10 deficiency type 3. It enables confirmatory diagnosis in symptomatic patients, guides treatment decisions including CoQ10 supplementation therapy, facilitates carrier detection in family members, supports genetic counselling regarding recurrence risk, and aids in prenatal or preimplantation genetic diagnosis for at-risk families.
How to Prepare
- Blood sample must be collected in an EDTA (Lavender Top) vacutainer
- Sample should be labeled clearly with patient name, date of birth, and unique ID
- If using FTA card, allow the blood spot to air dry completely before packaging
- Transport the sample at ambient room temperature; do not freeze
- Avoid hemolyzed or clotted samples
- Complete the genetic test requisition form with clinical history and family pedigree information
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Coenzyme Q10 deficiency type 3 is a rare but treatable mitochondrial disorder that can present with a spectrum of neurological and renal manifestations. Early genetic diagnosis through PDSS2 gene analysis using NGS technology allows for timely initiation of CoQ10 supplementation therapy, which can significantly improve patient outcomes. I recommend this test for any patient presenting with unexplained nephrotic syndrome, progressive encephalopathy, ataxia, or lactate acidosis, especially in the pediatric age group. Genetic counselling before and after testing is essential for families to understand inheritance patterns and recurrence risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample collected in incorrect anticoagulant (not EDTA)
- Insufficient sample volume
- Missing or mismatched patient identification details
- Sample received without completed requisition form
- Contaminated or leaked sample container
Understanding Your Results
Pathogenic or Likely Pathogenic Variant Detected (Biallelic)
Confirms the diagnosis of Coenzyme Q10 Deficiency Type 3. Both copies of the PDSS2 gene carry disease-causing mutations. High-dose CoQ10 supplementation therapy should be initiated. Family members should be offered carrier testing and genetic counselling.
Pathogenic or Likely Pathogenic Variant Detected (Monoallelic)
The patient is a carrier of one pathogenic variant in the PDSS2 gene. Carriers are typically unaffected. Partner testing and genetic counselling are recommended for family planning purposes.
Variant of Uncertain Significance (VUS) Detected
A genetic variant was identified, but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation, family segregation studies, and periodic reclassification are recommended. Testing of parents may help determine inheritance pattern.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the PDSS2 gene. This result does not completely exclude CoQ10 deficiency. Clinical correlation and consideration of other gene panel testing (COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9) or whole exome sequencing may be warranted.
Consult your neurologist, nephrologist, or geneticist if the test reveals any pathogenic or likely pathogenic variant, or a variant of uncertain significance. Immediate medical consultation is recommended if the patient shows symptoms such as progressive neurological deterioration, nephrotic syndrome, seizures, muscle weakness, or unexplained lactic acidosis. Early treatment with CoQ10 supplementation can prevent irreversible organ damage.
Limitations
- ⚠This test targets only the PDSS2 gene and does not analyze other genes associated with CoQ10 deficiency (COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9)
- ⚠Intronic deep intronic variants beyond the flanking splice regions may not be detected
- ⚠Variants of uncertain significance (VUS) may be identified, which require clinical correlation and periodic reclassification
- ⚠This test does not detect mitochondrial DNA variants
- ⚠A negative result does not completely exclude CoQ10 deficiency as other genes may be responsible
- ⚠Genotype-phenotype correlation may not always be straightforward due to variable expressivity
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very small risk of infection at the blood draw site
- ●Psychological impact of genetic test results, including anxiety about diagnosis or carrier status
- ●Potential identification of variants of uncertain significance (VUS) that may cause concern
- ●Implications for family members who may also be at risk of carrying the mutation
Interfering Factors
- ●Degraded or low-quality DNA sample may affect sequencing coverage and accuracy
- ●Recent blood transfusion within the past 4 weeks may lead to mixed DNA profiles
- ●Contamination during sample collection or transport may affect results
- ●Presence of somatic mosaicism may result in variant detection at low allele frequencies
- ●Large genomic rearrangements or copy number variations may not be fully detected by standard NGS analysis
Compare With Similar Tests
| Test | PDSS2 Gene Coenzyme Q10 deficiency type 3 NGS Genetic Test | COQ2 Gene CoQ10 Deficiency Type 1 Test | Mitochondrial Disorders Gene Panel | CoQ10 Blood Level Test | Muscle Biopsy with CoQ10 Measurement |
|---|---|---|---|---|---|
| Comparison | PDSS2 Gene Coenzyme Q10 deficiency type 3 NGS Genetic Test | Both tests diagnose primary CoQ10 deficiency but target different genes. COQ2 mutations cause Type 1 deficiency with more severe renal involvement. PDSS2 (Type 3) typically presents with nephrotic syndrome and encephalopathy. NGS panels may cover both genes simultaneously. | A broader panel that includes PDSS2 and other mitochondrial-related genes. Useful when the specific gene is unknown. The individual PDSS2 test is more targeted and cost-effective when clinical suspicion for Type 3 CoQ10 deficiency is high. | Biochemical measurement of CoQ10 levels in blood. This is a screening test that may suggest deficiency but cannot identify the specific gene mutation. The PDSS2 genetic test provides a molecular-level confirmatory diagnosis. | Direct measurement of CoQ10 in muscle tissue, considered the gold standard for confirming CoQ10 deficiency biochemically. However, it is an invasive procedure. The PDSS2 NGS test is a non-invasive genetic alternative that identifies the causative mutation. |
Frequently Asked Questions
What is the PDSS2 Gene Coenzyme Q10 Deficiency Type 3 NGS Genetic Test?
Why is the PDSS2 gene test recommended?
What sample is required for this test?
How long does it take to get the results?
What is Coenzyme Q10 Deficiency Type 3?
What are the symptoms of Coenzyme Q10 deficiency?
Is genetic counselling required before the PDSS2 gene test?
Can this test be performed on children?
What does a positive result mean for me and my family?
Is Coenzyme Q10 deficiency type 3 treatable?
Will I receive raw data files along with the clinical report?
Is the PDSS2 gene test covered under insurance schemes like PMJAY or CGHS?
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