ISCA2 Gene Multiple mitochondrial dysfunctions syndrome type 4 NGS Genetic Test
Short Name: ISCA2 Gene NGS Test
Also known as: ISCA2 Gene Mutation Test, MMDS4 Genetic Test, ISCA2 Next-Generation Sequencing
ISCA2 Gene Multiple mitochondrial dysfunctions syndrome type 4 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 Reports are usually issued within 3-4 weeks after sample receipt. Urgent reporting may be available on request.. 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 purpose of this NGS genetic test is to identify pathogenic variants in the ISCA2 gene that cause Multiple Mitochondrial Dysfunctions Syndrome Type 4 (MMDS4). Confirmatory molecular diagnosis helps in clinical management, prognostication, genetic counselling, and family planning. It also enables carrier detection and prenatal diagnosis in at-risk family members.
- Test Code
- 4344
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually issued within 3-4 weeks after sample receipt. Urgent reporting may be available on request.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Plan to have a genetic counselling session before sample collection to understand the purpose and outcome of the test.
Method: Blood draw or FTA card spotting
Laboratory Analysis
A blood sample will be collected from a vein in the arm. If using an FTA card, a drop of blood from a finger-prick will be applied to the card.
Report Delivery
No specific precautions. You may resume normal activities immediately after sample collection.
Timeline: Reports are usually issued within 3-4 weeks after sample receipt. Urgent reporting may be available on request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic variants in the ISCA2 gene that cause Multiple Mitochondrial Dysfunctions Syndrome Type 4 (MMDS4). Confirmatory molecular diagnosis helps in clinical management, prognostication, genetic counselling, and family planning. It also enables carrier detection and prenatal diagnosis in at-risk family members.
How to Prepare
- For blood collection, use an EDTA vacutainer and blood should be collected under aseptic conditions.
- For FTA card, apply a single drop of blood onto the designated circle and allow it to air dry completely.
- Label the sample with patient's name, date of birth, and collection date.
- Samples should be transported at ambient temperature if processed within 24-48 hours; otherwise, refrigerate.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for ISCA2 mutations is crucial for family planning and prenatal diagnosis when there is a history of mitochondrial disease."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient quantity of blood or DNA
- Improperly labeled sample
- Sample received without consent form or clinical details
Understanding Your Results
Pathogenic
Variant is disease-causing and confirms the diagnosis of MMDS4 when clinical features are present.
Likely Pathogenic
Variant is highly likely to be disease-causing; further confirmatory data may be considered.
Variant of Uncertain Significance (VUS)
Variant is not yet categorised as benign or pathogenic; additional family studies may help.
Benign/Likely Benign
Variant is not associated with disease and considered a normal finding.
Consult a specialist if you or your child has developmental delay, seizures, or other neurological symptoms. A neurologist or geneticist can evaluate signs and recommend appropriate genetic testing.
Limitations
- ⚠This test detects variants in the ISCA2 gene only and does not exclude other mitochondrial disorders or nuclear genes.
- ⚠Regulatory or intronic variants not covered by the targeted NGS assay may not be identified.
- ⚠Large deletions or duplications in the ISCA2 gene may not be detected by standard NGS unless CNV analysis is included.
- ⚠Interpretation of variants of uncertain significance may require additional testing or family studies.
Risks & Considerations
- ●There are no direct medical risks associated with the blood draw as this is a routine genetic test.
- ●Possible psychological impact of receiving a genetic diagnosis.
- ●Risk of incidental findings revealing unsolicited genetic information.
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination from another individual
- ●Incorrect sample storage or transport conditions
- ●Maternal cell contamination in prenatal samples if applicable
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Frequently Asked Questions
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