OPTN Gene Amyotrophic Lateral Sclerosis Type 12 NGS Genetic Test
Short Name: OPTN ALS12 NGS Test
Also known as: OPTN Gene ALS Type 12 Genetic Test, OPTN Mutation Analysis, Amyotrophic Lateral Sclerosis Type 12 NGS Test
OPTN Gene Amyotrophic Lateral Sclerosis Type 12 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 generally released in 3 to 4 weeks after the sample is received by the laboratory.. 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
To identify pathogenic variants in the OPTN gene associated with Amyotrophic Lateral Sclerosis Type 12, thereby aiding molecular diagnosis, genetic counselling, and risk assessment for family members.
- Test Code
- 3879
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally released in 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session to draw a family pedigree chart is recommended before testing. Inform your doctor about all family history and any previous genetic testing.
Method: Venipuncture / FTA card blood spot / Extracted DNA submission
Laboratory Analysis
A small blood sample will be collected from a vein in your arm. If using an FTA card, a few drops of blood will be placed on the card. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities immediately. The sample will be processed at the laboratory, and reports will be released in approximately 3 to 4 weeks.
Timeline: Reports are generally released in 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in the OPTN gene associated with Amyotrophic Lateral Sclerosis Type 12, thereby aiding molecular diagnosis, genetic counselling, and risk assessment for family members.
How to Prepare
- No special preparation or fasting is required.
- If providing whole blood, use an EDTA Vacutainer.
- For FTA card collection, apply one drop of blood per spot and allow to air dry.
- If providing extracted DNA, ensure it is labelled with patient name and date.
- Keep the sample at room temperature until transport to the laboratory.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NGS-based testing for OPTN variants is a valuable way to identify the genetic basis of ALS in selected patients; however, genetic counselling before and after testing is essential for correct interpretation and family implications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood specimen
- Insufficient sample volume
- Improperly labelled or unlabelled sample
- Leaking or unsealed container
- Sample received beyond the accepted stability period
Understanding Your Results
If you or a family member have ALS-related symptoms such as progressive muscle weakness, slurred speech, swallowing difficulty, or muscle twitching, consult a neurologist. If you have already tested positive for an OPTN variant, a genetic counsellor can help you understand the implications for you and your family.
Limitations
- ⚠NGS may not detect large structural rearrangements, trinucleotide repeat expansions, deep intronic variants, or mitochondrial variants.
- ⚠A variant of uncertain significance (VUS) is not diagnostic and may require additional family studies.
- ⚠A negative OPTN result does not exclude ALS caused by variants in other genes.
- ⚠This test is not intended to diagnose all forms of ALS and should be interpreted with clinical and family history.
Risks & Considerations
- ●Minimal pain or bruising at the blood collection site.
- ●Possible psychological impact of receiving a genetic test result; genetic counselling is advised.
Interfering Factors
- ●Suboptimal DNA quality or quantity
- ●Sample contamination or sample mix-up
- ●Variants outside the covered coding and splice regions
- ●Large deletions, duplications, or complex rearrangements if not separately analysed
- ●Pseudogene interference or GC-rich regions affecting read coverage
Frequently Asked Questions
What is the OPTN Gene Amyotrophic Lateral Sclerosis Type 12 NGS Genetic Test?
What is the cost of this test at DNA Labs India?
What sample is required?
Does the test require fasting?
How long does it take to get the report?
Who should get this test?
Can a negative result rule out ALS?
Does the test detect all mutations in the OPTN gene?
Will I receive raw data?
Is genetic counselling needed before testing?
Can healthy relatives take this test?
Is home sample collection available?
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