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PDSS1 Gene Coenzyme Q10 deficiency type 2 NGS Genetic Test

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PDSS1 Gene Coenzyme Q10 deficiency type 2 NGS Genetic Test

Short Name: PDSS1 Gene CoQ10 Deficiency Type 2 Test

Also known as: CoQ10 deficiency type 2 genetic test, PDSS1 gene mutation analysis, Primary CoQ10 deficiency type 2 NGS test

PDSS1 Gene Coenzyme Q10 deficiency type 2 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose Coenzyme Q10 deficiency type 2 caused by mutations in the PDSS1 gene. It aids in confirming the clinical suspicion, informing treatment decisions, assessing family risk, and facilitating genetic counseling for affected individuals and their families.

Test Code
1569
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure genetic counseling session is scheduled. Provide clinical history of the patient. No specific preparation required unless advised by the healthcare provider.

Method: Venipuncture or saliva collection

Step 2

Laboratory Analysis

A blood sample will be drawn via venipuncture, or a saliva sample collected. For FTA card, a drop of blood will be applied. The procedure is minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed. Results will be available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Complete genetic counseling and provide detailed medical history. No fasting is required unless specified.
2
During the Test:Sample collection via blood draw or saliva. The test involves NGS technology for comprehensive analysis.
3
After the Test:Monitor for any site discomfort. Await results in 3 to 4 weeks, then review with a genetic counselor.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Coenzyme Q10 deficiency type 2 caused by mutations in the PDSS1 gene. It aids in confirming the clinical suspicion, informing treatment decisions, assessing family risk, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Fast for 4 hours if required for specific protocols
  • Avoid strenuous activity before blood draw
  • Ensure sample is labeled correctly with patient details
  • Use sterile equipment for collection

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is essential for diagnosing rare genetic disorders like CoQ10 deficiency, enabling early intervention and personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for DNA extraction
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or saliva collection

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for years at -20°C
FTA card sample stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect sample type or container
  • Insufficient sample volume
  • Sample contaminated or unlabeled

Understanding Your Results

Results indicate the presence or absence of mutations in the PDSS1 gene associated with CoQ10 deficiency type 2. A positive result confirms the diagnosis, while a negative result may require further testing if clinical suspicion remains high.
A pathogenic mutation confirms CoQ10 deficiency type 2
Likely pathogenic variants suggest high probability of disease
Variants of uncertain significance require monitoring and family studies
Negative results do not rule out other genetic or non-genetic causes
Consult a genetic counselor for family risk assessment and management
⚠️ When to Consult a Doctor:

Consult a healthcare provider or genetic counselor if symptoms persist, if there is a family history of the disorder, or for guidance on treatment and family planning after receiving test results.

Limitations

  • ⚠May not detect all possible mutations in the PDSS1 gene
  • ⚠Interpretation requires clinical correlation and genetic counseling
  • ⚠Results may include variants of uncertain significance (VUS)

Risks & Considerations

  • ●Minor bruising or soreness at the blood draw site
  • ●Minimal risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample volume
  • ●Hemolyzed blood sample
  • ●Incorrect sample storage conditions

Compare With Similar Tests

TestPDSS1 Gene Coenzyme Q10 deficiency type 2 NGS Genetic TestPDSS2 Gene CoQ10 Deficiency TestCoenzyme Q10 Blood Level TestWhole Exome SequencingMitochondrial DNA Sequencing
ComparisonPDSS1 Gene Coenzyme Q10 deficiency type 2 NGS Genetic TestDifferent gene involved; may have overlapping symptomsMeasures Q10 levels, not genetic mutationsBroader genetic analysis, higher costFocuses on mitochondrial disorders, not specific to PDSS1

Frequently Asked Questions

What is PDSS1 Gene CoQ10 Deficiency Type 2?
It is a rare genetic disorder caused by mutations in the PDSS1 gene, leading to impaired coenzyme Q10 production and symptoms like muscle weakness and seizures.
Who should get this genetic test?
Individuals with symptoms of CoQ10 deficiency, family history of the disorder, or those recommended by a neurologist or geneticist.
How is the test performed?
The test uses next-generation sequencing (NGS) on a blood or saliva sample to detect mutations in the PDSS1 gene.
What is the cost of the test in India?
The test costs INR 20,000, with free home sample collection available across many cities.
Is fasting required before the test?
No fasting is required unless specified by the healthcare provider.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Results indicate if pathogenic mutations are present, confirming CoQ10 deficiency type 2, or if variants of uncertain significance are found, requiring further evaluation.
Is the test accurate?
Yes, NGS technology is highly accurate for detecting genetic mutations, but interpretation should be done by a genetic counselor.
What are the risks of the test?
Risks are minimal, such as slight bruising from blood draw, but genetic results may have emotional implications.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings.
What should I do after getting the results?
Consult a genetic counselor or healthcare provider to understand the results, discuss treatment options, and plan for family members.
Is the test covered by insurance?
Coverage varies by insurance provider; check with your insurer for specific policy details.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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