AKAP1 Gene Mitochondrial Disorders, AKAP1 related NGS Genetic Test
Short Name: AKAP1 NGS Genetic Test
Also known as: AKAP1 Gene Sequencing, AKAP1 Gene Mutation Analysis, AKAP1 Mitochondrial Disorder NGS Panel
AKAP1 Gene Mitochondrial Disorders, AKAP1 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood samples. Results in Reports are available within 3 to 4 weeks after the sample is received at the lab.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To detect pathogenic variants in the AKAP1 gene associated with mitochondrial disorders, enabling accurate diagnosis and informed management.
- Test Code
- 4324
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Reports are available within 3 to 4 weeks after the sample is received at the lab.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. The patient may continue their regular medications unless their physician advises otherwise.
Method: Peripheral blood draw
Laboratory Analysis
A trained phlebotomist will draw a peripheral blood sample using an EDTA vacutainer. The procedure takes about 5 minutes.
Report Delivery
No restrictions after sample collection. You can resume normal activities immediately.
Timeline: Reports are available within 3 to 4 weeks after the sample is received at the lab.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the AKAP1 gene associated with mitochondrial disorders, enabling accurate diagnosis and informed management.
How to Prepare
- Valid informed consent is required before sample collection.
- Please bring the prescription and relevant clinical history.
- If the patient has had a bone marrow transplant, inform the lab before collection.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Individuals presenting with unexplained muscle weakness, fatigue, seizures, or cardiac problems should consider genetic evaluation for mitochondrial disorders. Early diagnosis guides appropriate treatment and reproductive counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed blood sample
- Clotted specimen
- Insufficient sample volume
Understanding Your Results
Positive (Pathogenic variant detected)
Consistent with the clinical diagnosis of AKAP1-related mitochondrial disorder. Genetic counselling and further evaluation are recommended.
Negative (No pathogenic variant detected)
No pathogenic variant was found in the AKAP1 gene. This does not rule out a mitochondrial disorder. Additional genetic testing may be considered.
Variant of Uncertain Significance (VUS)
The clinical significance is unclear. Follow-up testing in family members may help reclassify the variant.
Consult your referring physician if you develop new or worsening symptoms, or to discuss the implications of your test result with a genetic counsellor.
Limitations
- ⚠This test detects variants in the AKAP1 gene only and may not identify mutations in other mitochondrial or nuclear genes.
- ⚠It may not detect large genomic rearrangements or deep intronic variants despite NGS.
- ⚠A negative result does not exclude a mitochondrial disorder.
- ⚠Variants of uncertain significance may require further family studies.
Risks & Considerations
- ●Minimal risk of bleeding or haematoma at the venepuncture site
- ●Mild dizziness during or after blood collection
Interfering Factors
- ●Insufficient DNA quantity or quality
- ●Contamination during sample collection
- ●Prior allogeneic bone marrow transplantation may affect results
- ●Presence of maternal cell contamination in blood samples
Compare With Similar Tests
| Test | AKAP1 Gene Mitochondrial Disorders, AKAP1 related NGS Genetic Test | AKAP1 Sanger Sequencing | Whole Exome Sequencing (WES) | Mitochondrial Disorder NGS Panel |
|---|---|---|---|---|
| Comparison | AKAP1 Gene Mitochondrial Disorders, AKAP1 related NGS Genetic Test |
Frequently Asked Questions
What is the AKAP1 gene?
What are the common symptoms of AKAP1 gene mitochondrial disorders?
Who should take the AKAP1 NGS genetic test?
What is the difference between Sanger sequencing and NGS for AKAP1?
How is the AKAP1 gene NGS test performed at DNA Labs India?
Is fasting required before the AKAP1 NGS test?
What is the cost of the AKAP1 NGS genetic test?
How long does it take to receive the report?
Can this test detect all types of AKAP1 gene mutations?
What does a negative AKAP1 NGS result mean?
Will this test help family members of a known AKAP1 mutation carrier?
Does DNA Labs India offer free home sample collection for this test?
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₹20,000Reference 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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