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SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic Test

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SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic Test

Short Name: SLC25A4 NGS Genetic Test

Also known as: SLC25A4 gene mutation analysis, ANT1 gene sequencing, PEO with mitochondrial deletions type 2 genetic test, Progressive external ophthalmoplegia genetic test

SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) - Targeted gene sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports will be delivered in 21-28 days after the sample reaches the laboratory. A preliminary report may be available online.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 primary purpose of this NGS genetic test is to identify pathogenic variants in the SLC25A4 gene that cause progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant. It serves to confirm a clinical diagnosis, aid in reproductive decision-making, and enable cascade screening of at-risk family members.

Test Code
4488
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be delivered in 21-28 days after the sample reaches the laboratory. A preliminary report may be available online.
Fasting Required
No
Method
Next-Generation Sequencing (NGS) - Targeted gene sequencing
Step 1

Sample Collection

No fasting is required. A genetic counseling session is recommended to discuss the benefits, risks, and limitations of testing. Please bring your medical records and details of family members affected with PEO symptoms.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A peripheral blood sample will be collected under sterile conditions by a trained phlebotomist. If using an FTA card, a few drops of blood will be placed on the card and allowed to air dry.

Step 3

Report Delivery

There are no post-collection restrictions. You may resume all normal activities immediately after sample collection.

Timeline: Reports will be delivered in 21-28 days after the sample reaches the laboratory. A preliminary report may be available online.

Patient Instructions

1
Before the Test:Pre-test genetic counseling is strongly encouraged. Write down any symptoms and family history to share with your healthcare provider.
2
During the Test:A simple blood sample is collected by a trained phlebotomist. The procedure takes about 5 minutes and is minimally invasive.
3
After the Test:You can return to normal activities immediately. Results are typically available in 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to identify pathogenic variants in the SLC25A4 gene that cause progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant. It serves to confirm a clinical diagnosis, aid in reproductive decision-making, and enable cascade screening of at-risk family members.

How to Prepare

  • Ensure the sample collection tube or FTA card is labeled with correct patient identification details.
  • For FTA cards, allow the blood spot to dry completely before placing it in the protective pouch.
  • Samples should be sent to the laboratory at ambient temperature (15-30°C).
  • The sample must be accompanied by a signed consent form and clinical history.

Doctor's Notes

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

"From a clinical perspective, genetic confirmation of PEO type 2 is crucial for accurate prognosis and family counseling. I recommend this test for any patient presenting with bilateral ptosis and ophthalmoplegia in whom mitochondrial disease is suspected. Early identification allows implementation of supportive measures and prevention of unnecessary immunosuppressive therapy."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood (EDTA)24-48 hours
Whole blood (EDTA)5-7 days
Extracted DNA6 months
FTA blood spot2-5 years
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume for DNA extraction
  • Mislabelled or unlabeled samples
  • Samples with incomplete requisition form or missing consent

Understanding Your Results

Results will be interpreted by a molecular geneticist. Pathogenic or likely pathogenic variants in SLC25A4 are consistent with a diagnosis of PEO type 2. A negative result does not rule out the disease.
📊

Pathogenic variant detected

Confirms the clinical diagnosis of PEO2. Predictive testing of at-risk family members is recommended.

📊

Likely pathogenic variant detected

Strongly suggests PEO2; further family studies may help confirm pathogenicity.

📊

Variant of unknown significance (VUS)

Insufficient evidence to determine clinical significance. Additional testing and family segregation analysis are advised.

📊

No pathogenic variant identified

Does not exclude PEO2. Consider testing other genes associated with PEO or mitochondrial disorders.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you experience symptoms such as progressive drooping of eyelids, restricted eye movements, swallowing or speech difficulties, or unexplained muscle weakness. This test is ordered by a specialist after a thorough clinical assessment.

Risks & Considerations

  • ●Minimal risk of bruising at the blood draw site
  • ●Rare possibility of dizziness or infection

Interfering Factors

  • ●Technical limitations in GC-rich regions may affect sequencing quality
  • ●Presence of pseudogenes or homologous sequences may interfere with mapping
  • ●Variant interpretation may be affected by incomplete clinical information

Compare With Similar Tests

TestSLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic Test
ComparisonSLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is Progressive External Ophthalmoplegia (PEO) type 2?
PEO type 2 is a rare autosomal dominant disorder caused by mutations in the SLC25A4 gene, leading to impaired mitochondrial energy production. It typically presents in adulthood with ptosis, ophthalmoplegia, and limb weakness.
How is this NGS test different from routine blood tests?
This test uses next-generation sequencing to analyze the SLC25A4 gene at high depth, detecting single nucleotide variants and small insertions/deletions. Routine blood tests do not assess genetic mutations.
What is the inheritance pattern of PEO type 2?
PEO type 2 is inherited in an autosomal dominant manner, meaning a single mutated copy of the SLC25A4 gene can cause the disorder. There is a 50% risk of passing the mutation to offspring.
Can symptoms of PEO type 2 be treated?
While there is no cure, treatment focuses on managing symptoms. Physiotherapy may help muscle weakness, and surgery can correct ptosis. A multidisciplinary approach is important.
Who should undergo this test?
Individuals with clinical suspicion of PEO, such as unexplained ptosis and ophthalmoplegia, and those with a family history of PEO or mitochondrial disease are candidates.
What sample is required?
The test can be performed on whole blood (EDTA), extracted DNA, or a dried blood spot on an FTA card. Home collection is available.
How long does it take to get results?
The turnaround time is approximately 3 to 4 weeks from sample submission.
What do the results indicate?
If a pathogenic variant is found, it confirms the diagnosis. If no variant is found, other genetic causes may need to be investigated.
Is genetic counseling necessary?
Yes, pre-test and post-test genetic counseling are recommended to understand the implications of results, especially in hereditary conditions.
Does this test detect all mitochondrial deletions?
No. The test targets mutations in the SLC25A4 gene. Mitochondrial DNA deletions may be identified via muscle biopsy testing, not directly by this NGS test.
Is the test available outside India?
DNA Labs India accepts samples from overseas, but shipping conditions and international logistics may apply. Please contact us for details.
What is the cost of the SLC25A4 genetic test?
The total cost is INR 20000, which includes genetic counseling, sample collection, NGS analysis, and access to raw data (FASTQ and VCF files) for transparency.
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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