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Neurofibromatosis type 1 (NF1) gene analysis
₹ 15000
Neurofibromatosis Type 1 (NF1) Gene Analysis Test
₹ 15000 ₹ 15000

Neurofibromatosis Type 1 (NF1) Gene Analysis Test

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Neurofibromatosis type 1 (NF1) gene analysis Price

₹ 15000

Brief Details

Preparation
No special preparation required
Also Known As
Neurofibromatosis type 1 (NF1) gene analysis
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations in the NF1 gene associated with Neurofibromatosis Type 1

What is the Neurofibromatosis Type 1 (NF1) Gene Analysis Test?

The Neurofibromatosis Type 1 (NF1) Gene Analysis Test is a genetic blood test used to diagnose Neurofibromatosis Type 1, a common inherited condition that affects the skin, nerves, and other body systems. It is characterised by the development of café au lait spots, neurofibromas, and a wide range of neurological and skeletal manifestations.

This test analyses the NF1 gene using next generation sequencing technology to identify disease causing genetic changes. Confirming a pathogenic variant helps establish the diagnosis, understand disease variability, and guide long-term monitoring and care. The test requires a blood sample collected in an EDTA tube.

What Does the Neurofibromatosis Type 1 (NF1) Gene Analysis Test Measure?

This genetic test looks for disease causing changes in the NF1 gene:

  • Detects pathogenic variants responsible for Neurofibromatosis Type 1
  • Helps confirm inherited tumour predisposition syndromes
  • Supports diagnosis in individuals with characteristic skin or nerve findings
  • Aids genetic counselling and family screening
  • Guides monitoring of tumour related complications

Neurofibromatosis Type 1 (NF1) Gene Analysis Test: Who Needs It and Why It’s Done

What Symptoms May Call for a Neurofibromatosis Type 1 (NF1) Gene Analysis Test?

Doctors may recommend this test if you or your child experience:

  • Multiple café au lait spots on the skin
  • Cutaneous or plexiform neurofibromas
  • Freckling in the armpits or groin area
  • Learning difficulties or developmental delay
  • Bone abnormalities or unexplained scoliosis

Who Should Get a Neurofibromatosis Type 1 (NF1) Gene Analysis Test?

This test may be advised for:

  • Individuals meeting or suspected to meet clinical criteria for NF1
  • Children with early skin signs and developmental concerns
  • Patients with multiple nerve tumours or optic pathway gliomas
  • People with a family history of Neurofibromatosis Type 1
  • Families seeking genetic counselling and risk assessment

Why is the Neurofibromatosis Type 1 (NF1) Gene Analysis Test Done?

The test helps confirm the genetic cause of Neurofibromatosis Type 1, enabling accurate diagnosis, appropriate surveillance, and informed family planning.

Neurofibromatosis Type 1 (NF1) Gene Analysis Test Booking & Reports – Metropolis Healthcare

How to Book the Neurofibromatosis Type 1 (NF1) Gene Analysis Test and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Neurofibromatosis Type 1 (NF1) Gene Analysis Test, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
  5. Quick and Easy Reports
    Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Neurofibromatosis Type 1 (NF1) Gene Analysis Test Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Neurofibromatosis Type 1 (NF1) Gene Analysis Test. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get the Neurofibromatosis Type 1 (NF1) Gene Analysis Test Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Neurofibromatosis Type 1 (NF1) Gene Analysis Test Results?

You can access your test reports through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting Neurofibromatosis Type 1 (NF1) Gene Analysis Test Results

What Your Neurofibromatosis Type 1 (NF1) Gene Analysis Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
NF1 gene No disease causing variant detected Confirmed genetic Neurofibromatosis Type 1 Symptoms may be due to other conditions or variants not detected by this analysis

Understanding Abnormal Neurofibromatosis Type 1 (NF1) Gene Analysis Results

Finding What It May Indicate
Pathogenic NF1 variant Neurofibromatosis Type 1 with tumour predisposition
No pathogenic variant Alternative genetic or non genetic causes may need evaluation

How Should You Prepare for a Neurofibromatosis Type 1 (NF1) Gene Analysis Test?

This genetic test requires minimal preparation from your side:

  • No fasting required: You can eat and drink normally before sample collection
  • Normal hydration: Maintain your usual fluid intake
  • Medication disclosure: Inform your doctor about any medicines or supplements you are taking
  • Share clinical history: Provide relevant medical and family history as advised
  • Consent and documentation: Ensure the test requisition form and genetic history details are completed

How Is a Neurofibromatosis Type 1 (NF1) Gene Analysis Test Done? (Step-by-Step Procedure)

The test is performed using a standard blood collection process:

  • Preparation: A tourniquet is tied around your arm to make veins more visible
  • Cleaning: The puncture site is cleaned with antiseptic
  • Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The sample undergoes next generation sequencing to analyse the NF1 gene

Conditions That May Affect Neurofibromatosis Type 1 (NF1) Gene Analysis Test Accuracy

Certain patient related factors may influence test interpretation:

  • Recent blood transfusion, which may affect genetic analysis
  • Incomplete or inaccurate family history details
  • Presence of mosaic genetic changes requiring clinical correlation

Diseases That the Neurofibromatosis Type 1 (NF1) Gene Analysis Test Can Help Detect

  • Neurofibromatosis Type 1
  • Inherited tumour predisposition syndromes
  • Genetic disorders associated with nerve sheath tumours

References

  1. Williams V.C., Lucas J., Babcock M.A., et al. (2009). Neurofibromatosis type 1 revisited. Pediatrics, 123(1), 124–133. PMID: 19117870
  2. Ferner R.E., Huson S.M., Thomas N., et al. (2007). Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of Medical Genetics, 44(2), 81–88. PMID: 17105749
  3. Evans D.G., O’Hara C., Wilding A., et al. (2010). Mortality in neurofibromatosis 1. American Journal of Medical Genetics Part A, 152A(10), 2491–2497. PMID: 20734336

Frequently asked questions

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Ratings & Reviews

We're satisfying our customers every day since 1980.

Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

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  • Dedicated support team to resolve any delays or queries quickly

Why Metropolis Healthcare?

Metropolis has been present for over 40 years in the market.

Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.

In diagnostic services, we have more than three decades of experience servicing diverse stakeholders health advantage packages for men, women and seniors, genetic fitness & corporation in over 650+ tests like Oncology, Neurology, Gynaecology, Haematology, and many more. Our diagnostic services are located in leading doctors and clinics and serve over 15+ cities in India.

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