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NF1 Gene Neurofibromatosis type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NF1 Gene Neurofibromatosis type 1 NGS Genetic Test

Short Name: NF1 NGS Genetic Test

Also known as: NF1 Genetic Test, Neurofibromatosis Type 1 DNA Test, NF1 Mutation Analysis

NF1 Gene Neurofibromatosis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To detect pathogenic mutations in the NF1 gene for the diagnosis of Neurofibromatosis type 1, aiding in clinical management and genetic counseling.

Test Code
5063
ICD Code
Q85.01
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 Technology
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A small blood sample will be drawn via venipuncture. The procedure is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Blood sample collection for DNA extraction and NGS analysis.
3
After the Test:Results are reviewed by a geneticist, and a report is provided with recommendations.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the NF1 gene for the diagnosis of Neurofibromatosis type 1, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure patient identification is correct
  • Use sterile equipment for blood draw
  • Label sample properly with patient details
  • Transport sample at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for NF1 is crucial for accurate diagnosis, management, and genetic counseling to assess family risk."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the NF1 gene. A positive result confirms NF1 diagnosis, while a negative result may require further testing if clinical suspicion remains.
📊

Positive for NF1 mutation

Confirms diagnosis of Neurofibromatosis type 1. Genetic counseling recommended for family risk assessment.

📊

Negative for NF1 mutation

No pathogenic variants detected. Clinical correlation and additional tests may be needed if symptoms persist.

📊

Variant of uncertain significance

Further evaluation and family studies required to determine clinical relevance.

⚠️ When to Consult a Doctor:

If you have symptoms of NF1, a family history of the condition, or receive a positive genetic test result, consult a healthcare provider or geneticist for management and counseling.

Limitations

  • ⚠May not detect all types of NF1 mutations, such as large deletions
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Not a substitute for clinical diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Improper sample storage or handling

Compare With Similar Tests

TestNF1 Gene Neurofibromatosis type 1 NGS Genetic TestSanger Sequencing for NF1Whole Exome Sequencing
ComparisonNF1 Gene Neurofibromatosis type 1 NGS Genetic Test

Frequently Asked Questions

What is Neurofibromatosis type 1 (NF1)?
NF1 is a genetic disorder caused by mutations in the NF1 gene, leading to tumor growth along nerves and symptoms like skin spots and learning disabilities.
What are the common symptoms of NF1?
Symptoms include café-au-lait spots, neurofibromas, bone deformities, learning disabilities, vision problems, and high blood pressure.
How is NF1 diagnosed?
Diagnosis involves clinical examination, medical history, and genetic testing to detect NF1 gene mutations.
What is the NF1 Gene NGS Genetic Test?
It is a Next Generation Sequencing test that sequences the NF1 gene to identify mutations causing Neurofibromatosis type 1.
What is the cost of the NF1 Gene Test at DNA Labs India?
The test costs INR 20000, with free home sample collection available across India.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
What does a positive test result mean?
A positive result confirms a mutation in the NF1 gene, indicating Neurofibromatosis type 1. Genetic counseling is recommended.
Can the test detect all NF1 mutations?
The test has high sensitivity but may not detect all mutation types, such as large deletions. Additional tests may be needed.
Who should consider this genetic test?
Individuals with symptoms of NF1, a family history of the condition, or those seeking diagnosis for management and family planning.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

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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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