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SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic Test

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SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic Test

Short Name: SLC25A3 Gene Test

Also known as: Mitochondrial Phosphate Carrier Deficiency Test, MPD Genetic Test

SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To identify mutations in the SLC25A3 gene for the diagnosis of Mitochondrial Phosphate Carrier Deficiency (MPD), aiding in clinical management and genetic counseling.

Test Code
5273
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history of patient and a genetic counseling session to draw a pedigree chart of family members affected with MPD.

Method: Venipuncture or FTA Card collection

Step 2

Laboratory Analysis

Standard blood draw using venipuncture or collection of one drop blood on FTA card.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and assessment of family history and clinical symptoms.
2
During the Test:Sample collection and processing for NGS analysis.
3
After the Test:Report generation, delivery, and follow-up consultation with a geneticist.

About This Test

Who Should Get This Test

To identify mutations in the SLC25A3 gene for the diagnosis of Mitochondrial Phosphate Carrier Deficiency (MPD), aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile collection equipment
  • Label samples with patient details
  • Store samples appropriately before transport

Doctor's Notes

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

"This test is crucial for diagnosing rare mitochondrial disorders and guiding family planning, especially in cases with unexplained developmental or cardiac issues."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample VolumeStandard volume as required
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA Card collection

Sample Stability

Blood: 24 hours at room temperature
FTA Card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC25A3 gene, which are associated with Mitochondrial Phosphate Carrier Deficiency.
📊

Positive

Pathogenic variant detected, confirming diagnosis of MPD. Genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Consider other genetic or metabolic disorders if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms such as developmental delay, heart abnormalities, or seizures are present, or if genetic counseling is needed for family planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires interpretation by a geneticist
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed samples

Frequently Asked Questions

What is the SLC25A3 Gene Test?
It is an NGS genetic test that analyzes the SLC25A3 gene to identify mutations causing Mitochondrial Phosphate Carrier Deficiency (MPD).
Who should take this test?
Individuals with symptoms like developmental delay, heart abnormalities, seizures, or a family history of mitochondrial disorders.
What are the symptoms of MPD?
Common symptoms include developmental delay, intellectual disability, weak muscle tone, breathing difficulties, heart abnormalities, seizures, and lactic acidosis.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) on a blood sample or extracted DNA to detect mutations in the SLC25A3 gene.
What is the cost of the test?
The cost is INR 20,000, which may vary slightly by location.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic variant in the SLC25A3 gene, confirming MPD diagnosis. Genetic counseling is recommended.
What if the test is negative?
A negative result means no pathogenic variants were detected. If symptoms persist, other tests or genetic counseling may be advised.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand results, implications, and family planning.
Is the test covered by insurance?
Coverage depends on the insurance provider. Check with your insurer for details.
How accurate is the NGS test?
NGS is highly accurate for detecting genetic variants, but results should be interpreted by a qualified geneticist in clinical context.
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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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