C9orf72 Gene Amyotrophic Lateral Sclerosis with Frontotemporal Dementia NGS Genetic Test
Short Name: C9orf72 ALS-FTD NGS Test
Also known as: C9orf72 Gene Test, C9orf72 Repeat Expansion Test, ALS-FTD NGS Gene Test, C9orf72-associated ALS/FTD Genetic Test
C9orf72 Gene Amyotrophic Lateral Sclerosis with Frontotemporal Dementia 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 available within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect disease-associated C9orf72 repeat expansions in patients with features of ALS/FTD or a family history of these conditions. The test helps confirm a genetic diagnosis, guides family counselling and enables at-risk relatives to make informed reproductive and clinical decisions.
- Test Code
- 3896
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counselling session before the test is advised to record clinical history and draw a family pedigree chart.
Method: Peripheral blood draw or FTA card blood spot or submitted extracted DNA
Laboratory Analysis
A small amount of venous blood is collected, or one drop of blood is placed on an FTA card. If extracted DNA is being submitted, it is checked for adequacy before processing.
Report Delivery
No dietary or activity restrictions are needed. The report will be shared after the defined turnaround time and a genetic counsellor will help explain the result.
Timeline: Reports are usually available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect disease-associated C9orf72 repeat expansions in patients with features of ALS/FTD or a family history of these conditions. The test helps confirm a genetic diagnosis, guides family counselling and enables at-risk relatives to make informed reproductive and clinical decisions.
How to Prepare
- No fasting is required.
- Carry any previous neurology, MRI, or genetic reports.
- Provide family history of ALS, FTD, dementia, or motor neuron disease.
- Inform the lab if the patient has undergone allogeneic bone marrow transplantation or a recent blood transfusion.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for C9orf72 should be considered when a neurologist finds upper or lower motor neuron dysfunction and features of frontotemporal dysfunction. Pre-test genetic counselling helps patients understand the implications of genetic results before testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Haemolysed or clotted blood sample
- Improperly labelled sample
- FTA card not fully dried or contaminated
- Missing clinical history or consent forms
Understanding Your Results
No pathogenic C9orf72 repeat expansion detected
No evidence of C9orf72-associated ALS/FTD was found in the tested sample. Other genetic and non-genetic causes may need to be considered.
Pathogenic C9orf72 repeat expansion detected
The result is consistent with C9orf72-associated ALS/FTD. Family members may benefit from predictive testing and genetic counselling.
Variant of uncertain significance (VUS) identified
The clinical significance of the detected DNA change is currently unknown. Further segregation or functional studies may be needed.
Consult a neurologist if you have progressive weakness, wasting, cramps, slurred speech, swallowing difficulty, or unexplained behavioural and cognitive changes. A genetic counsellor should be consulted before and after genetic testing.
Limitations
- ⚠This test is designed to evaluate C9orf72 and may not detect other genetic causes of ALS or FTD.
- ⚠NGS may not determine the exact length of very large C9orf72 repeat expansions.
- ⚠A negative result does not rule out ALS/FTD caused by other genes or non-genetic factors.
- ⚠C9orf72-related disorders have variable penetrance and expressivity; the test cannot predict exact age of onset or severity.
- ⚠A variant of uncertain significance may be identified, requiring further family studies and clinical correlation.
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Psychological stress related to result disclosure
- ●Possibility of a variant of uncertain significance
Interfering Factors
- ●Insufficient or degraded DNA can affect NGS performance.
- ●Sample contamination during collection or handling may interfere with results.
- ●Extremely large C9orf72 repeat expansions may require additional repeat-primed PCR for confirmation.
- ●Recent bone marrow transplant from another individual can alter genetic test results.
Frequently Asked Questions
What is the C9orf72 gene test?
What is the cost of the C9orf72 ALS-FTD NGS test at DNA Labs India?
Which sample is required for this test?
Do I need to fast before this test?
How long will the report take?
Who should consider this genetic test?
What does a positive C9orf72 result mean?
Can C9orf72 cause both ALS and FTD?
Can this test predict when symptoms will start?
Does DNA Labs India provide home sample collection for this test?
Will insurance cover this test?
What is the difference between ALS and FTD?
Related Tests
Huntington Disease Mutation Detection Test
₹8,000Myotonic Dystrophy Type 1 Test
₹8,500Nx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test
₹23,400Nx Gen Sequencing: Tuberous Sclerosis Complex Test
₹27,495MED25 Gene CMT2B2 NGS Genetic Test
₹20,000FLNA Gene Intestinal pseudoobstraction, neuronal NGS Genetic Test
₹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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.