CHMP2B Gene Amyotrophic Lateral Sclerosis Type 17 NGS Genetic Test
Short Name: CHMP2B ALS Type 17 NGS
Also known as: CHMP2B gene ALS test, ALS Type 17 genetic test, CHMP2B mutation analysis, NGS test for CHMP2B-related ALS/FTD
CHMP2B Gene Amyotrophic Lateral Sclerosis Type 17 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 to 4 weeks after the sample is received at 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
The purpose of this test is to identify disease-causing variants in the CHMP2B gene in individuals with clinical features of ALS/FTD, in those with a family history of ALS Type 17, and in at-risk relatives. The result can support a molecular diagnosis, guide genetic counseling, and help determine whether other family members should be tested.
- Test Code
- 3883
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually issued within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry the doctor's referral, prior ALS/FTD clinical records, and any previous genetic testing reports. An individual genetic counselling session may be scheduled before the sample collection to draw a pedigree chart.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a small amount of blood in an EDTA tube, or a single drop of blood will be collected on an FTA card, depending on the requested sample type.
Report Delivery
You may resume normal activities immediately. No special precautions are needed.
Timeline: Reports are usually issued within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing variants in the CHMP2B gene in individuals with clinical features of ALS/FTD, in those with a family history of ALS Type 17, and in at-risk relatives. The result can support a molecular diagnosis, guide genetic counseling, and help determine whether other family members should be tested.
How to Prepare
- No fasting is required.
- Inform the collection staff if you are on any anticoagulant therapy.
- Ensure the sample or FTA card is labelled with the patient's name and unique ID.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NGS-based single gene testing is most helpful when there is a prior clinical or family indication. The test result must always be integrated with neurological examination and family history before making decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrectly labelled or unlabelled sample
- Clotted, haemolysed or frozen whole blood
- Sample not transported in appropriate media
- Inadequate amount of blood or insufficient DNA
Understanding Your Results
No pathogenic variant detected
Negative
Action: No CHMP2B variant associated with ALS Type 17 was found. Other genetic and non-genetic causes should be considered.
Variant of uncertain significance (VUS)
Uncertain
Action: A variant was identified but its clinical significance is not known. Family segregation analysis and further clinical correlation are recommended.
Pathogenic or Likely pathogenic variant
Positive
Action: The result is consistent with a molecular diagnosis of CHMP2B-related ALS Type 17/FTD. Genetic counseling and family screening are recommended.
If the result shows a pathogenic or likely pathogenic variant, please consult a clinical geneticist or neurologist for personalised risk management and testing of at-risk family members.
Limitations
- ⚠This test only covers the CHMP2B gene and will not detect variants in other ALS/FTD genes
- ⚠A negative result does not exclude a genetic cause from another gene
- ⚠NGS cannot reliably detect all structural variants, large rearrangements, or repeat expansions
- ⚠Variant classification may change when new evidence emerges
Risks & Considerations
- ●Slight bruising at the blood collection site
- ●Rare local infection or bleeding
- ●No significant medical risks associated with blood sampling
Interfering Factors
- ●Insufficient, degraded or contaminated DNA lowers sensitivity
- ●Very rare large deletions or duplications may not be identified by routine NGS analysis
- ●If the patient has undergone allogeneic bone marrow transplant, blood DNA may reflect donor DNA
- ●Improper sample storage or transport may interfere with test accuracy
Compare With Similar Tests
| Test | CHMP2B Gene Amyotrophic Lateral Sclerosis Type 17 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | CHMP2B Gene Amyotrophic Lateral Sclerosis Type 17 NGS Genetic Test |
Frequently Asked Questions
What is CHMP2B gene?
What is ALS Type 17?
What are the symptoms of ALS Type 17?
How is ALS Type 17 diagnosed?
What is the cost of the CHMP2B gene NGS test at DNA Labs India?
What sample is required for this test?
Is fasting required for this genetic test?
How long does it take to get the report?
Who should take this test?
What does a positive test result mean?
What does a negative test result mean?
Is home sample collection available?
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