NF1 Gene Neurofibromatosis type 1 NGS Genetic Test
Short Name: NF1 NGS Test
Also known as: NF1 Genetic Test, Neurofibromatosis Type 1 NGS Test, NF1 Gene Mutation Test
NF1 Gene Neurofibromatosis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-generation sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 the NF1 Gene Neurofibromatosis Type 1 NGS Genetic Test is to identify mutations in the NF1 gene for the diagnosis of Neurofibromatosis type 1. This test helps confirm the disorder, guide treatment decisions, and assess risks for family members.
- Test Code
- 2916
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS (Next-generation sequencing)
Sample Collection
Clinical history of the patient is required, including symptoms and family history. A genetic counseling session is recommended to draw a pedigree chart of family members affected with NF1.
Method: Blood draw or DNA extraction from provided sample
Laboratory Analysis
Sample collection involves a blood draw or providing a saliva/DNA sample. The process is minimally invasive and performed by trained phlebotomists.
Report Delivery
After collection, the sample is processed and analyzed using NGS technology. Results are typically available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the NF1 Gene Neurofibromatosis Type 1 NGS Genetic Test is to identify mutations in the NF1 gene for the diagnosis of Neurofibromatosis type 1. This test helps confirm the disorder, guide treatment decisions, and assess risks for family members.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Store samples at appropriate temperature until transport
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for NF1 can aid in timely management, family planning, and monitoring for complications such as tumor development."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Incorrect labeling or insufficient sample volume
- Samples not stored properly
Understanding Your Results
Positive for NF1 mutation
Confirms diagnosis of Neurofibromatosis type 1. Genetic counseling and further clinical evaluation recommended.
Negative for NF1 mutation
No pathogenic variant detected. Clinical correlation is advised, as some cases may have mutations not detected by this test.
Variant of uncertain significance
A genetic variant was found, but its clinical significance is unclear. Further testing and family studies may be needed.
Consult a doctor if you or your child exhibits symptoms of NF1, such as café-au-lait spots, neurofibromas, or learning disabilities, or if there is a family history of the disorder. Early consultation can facilitate timely diagnosis and management.
Limitations
- ⚠Test may not detect all types of NF1 mutations
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not predict severity of symptoms
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Frequently Asked Questions
What is the NF1 Gene Neurofibromatosis Type 1 NGS Genetic Test?
Who should consider this test?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
What does a positive result mean?
Can the test detect all NF1 mutations?
Is home sample collection available?
What is the cost of the test?
How is the test different from other genetic tests?
What should I do after receiving the results?
Is the test covered by insurance?
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Reference 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.
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