SS18L1 Gene Amyotrophic Lateral Sclerosis, CREST Related NGS Genetic Test
Short Name: SS18L1 ALS CREST NGS Test
Also known as: SS18L1 Gene ALS Genetic Test, SS18L1 Mutation Analysis by NGS, ALS CREST Related NGS Genetic Test
SS18L1 Gene Amyotrophic Lateral Sclerosis, CREST Related 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 typically available in 3 to 4 weeks after the sample reaches 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 or likely pathogenic variations in the SS18L1 gene that may contribute to amyotrophic lateral sclerosis. This test supports clinical diagnosis, genetic counselling, and family risk assessment in selected patients with suspected ALS.
- Test Code
- 3892
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A doctor's referral and clinical history are needed. A genetic counselling session to draw a pedigree chart of family members affected with ALS is recommended before testing.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A small blood sample is taken by a trained phlebotomist. Alternatively, one drop of blood may be collected on an FTA card, or an extracted DNA sample may be submitted.
Report Delivery
No restrictions are needed after sample collection. You may resume normal activities. The sample is transported to the laboratory for NGS analysis.
Timeline: Reports are typically available in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic or likely pathogenic variations in the SS18L1 gene that may contribute to amyotrophic lateral sclerosis. This test supports clinical diagnosis, genetic counselling, and family risk assessment in selected patients with suspected ALS.
How to Prepare
- Bring your identity proof and clinician prescription.
- Inform the lab if you have recently received a blood transfusion or bone marrow transplant.
- Ensure the sample is labelled with full name and date of birth.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In ALS, genetic testing is most informative when there is a family history or early onset of disease. An NGS-based single-gene test for SS18L1 should be considered only after a thorough neurological assessment and genetic counselling. A negative result does not exclude ALS, and a positive result should be interpreted alongside clinical findings."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabeled or mislabelled samples
- Hemolyzed or clotted blood samples
- Insufficient blood quantity or missing FTA card spots
- Samples received outside acceptable transport conditions
Understanding Your Results
Positive / Pathogenic variant
A pathogenic or likely pathogenic variant in SS18L1 gene has been identified. This may support a genetic contribution to ALS and helps guide genetic counselling of family members.
Negative / No pathogenic variant
No clinically significant variants were detected in the SS18L1 gene. A negative result does not completely exclude a genetic cause of ALS.
Variant of uncertain significance (VUS)
A variant was found but its clinical significance is not yet clear. Further family studies or additional testing may be needed.
If you or a family member have symptoms like progressive limb weakness, muscle twitching, slurred speech, difficulty swallowing, or breathing difficulty, consult a neurologist. Genetic testing should only be done after informed consent and genetic counselling.
Risks & Considerations
- ●Mild pain or bruising at the blood draw site
- ●Minimal risk of infection at the venipuncture site
- ●Possibility of finding a variant of uncertain significance
- ●Psychological impact of genetic test results
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination of blood sample
- ●Mislabelled sample
- ●Low sequencing coverage in complex genomic regions
- ●Incomplete clinical or family history may affect interpretation
Compare With Similar Tests
| Test | SS18L1 Gene Amyotrophic Lateral Sclerosis, CREST Related NGS Genetic Test | |
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| Comparison | SS18L1 Gene Amyotrophic Lateral Sclerosis, CREST Related NGS Genetic Test |
Frequently Asked Questions
What is the SS18L1 gene amyotrophic lateral sclerosis (ALS) CREST related NGS genetic test?
Who should consider this SS18L1 gene ALS genetic test?
What is the cost of the SS18L1 gene ALS CREST related NGS genetic test at DNA Labs India?
Is fasting required before the SS18L1 gene ALS genetic test?
What sample types are accepted for this NGS genetic test?
How is the SS18L1 gene ALS CREST related genetic test performed?
When will I receive the reports?
What do positive SS18L1 gene mutation results mean?
What does a negative SS18L1 gene result mean?
Will I receive raw data files with my clinical report?
Does DNA Labs India offer home sample collection for this test?
Is genetic counselling included with this test?
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