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SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic Test

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SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic Test

Short Name: SPRED1 Gene Test

Also known as: Legius syndrome, NF1-like syndrome

SPRED1 Gene Neurofibromatosis type 1 -like syndrome 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of the SPRED1 Gene NGS Genetic Test is to diagnose Neurofibromatosis type 1-like syndrome by detecting pathogenic mutations in the SPRED1 gene. It helps confirm clinical suspicions, differentiate from neurofibromatosis type 1, guide treatment decisions, assess familial risk, and facilitate genetic counseling.

Test Code
5064
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

Clinical history of the patient, including symptoms and family history, should be reviewed. A genetic counseling session is recommended to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture, or alternatively, extracted DNA or a blood drop on an FTA card may be used.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting is required.
2
During the Test:A blood sample is drawn from a vein in the arm, typically taking a few minutes.
3
After the Test:Resume normal activities. Mild bruising at the puncture site may occur.

About This Test

Who Should Get This Test

The purpose of the SPRED1 Gene NGS Genetic Test is to diagnose Neurofibromatosis type 1-like syndrome by detecting pathogenic mutations in the SPRED1 gene. It helps confirm clinical suspicions, differentiate from neurofibromatosis type 1, guide treatment decisions, assess familial risk, and facilitate genetic counseling.

How to Prepare

  • Ensure the patient is relaxed and hydrated.
  • Use sterile equipment for blood collection.
  • Label the sample correctly with patient details.
  • Store the sample at ambient room temperature if not processed immediately.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for SPRED1 mutations is essential for differentiating NF1-like syndrome from neurofibromatosis type 1, guiding appropriate management and family counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Understanding Your Results

Results from the SPRED1 Gene NGS Genetic Test are interpreted based on the presence or absence of pathogenic mutations in the SPRED1 gene.
📊

Negative

No pathogenic variants detected in the SPRED1 gene. Clinical correlation is advised if symptoms persist.

📊

Positive

A pathogenic variant in the SPRED1 gene is identified, confirming Neurofibromatosis type 1-like syndrome. Genetic counseling and further management are recommended.

📊

Variant of Uncertain Significance (VUS)

A genetic variant is detected but its clinical significance is unknown. Repeat testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if you experience symptoms such as café-au-lait spots, tumors, skeletal issues, or have a family history of neurofibromatosis. Genetic counseling is advised before and after testing.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection

Frequently Asked Questions

What is SPRED1 Gene Neurofibromatosis type 1-like syndrome?
It is a rare genetic disorder caused by mutations in the SPRED1 gene, presenting symptoms similar to neurofibromatosis type 1, such as café-au-lait spots and tumors.
What are the common symptoms of this syndrome?
Symptoms include café-au-lait spots, benign skin tumors, skeletal abnormalities, learning difficulties, and speech delays.
How is the SPRED1 Gene NGS Genetic Test performed?
The test uses next-generation sequencing (NGS) to analyze a blood or DNA sample for mutations in the SPRED1 gene.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available in many cities.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings across India, including major cities like Mumbai, Delhi, and Bangalore.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the SPRED1 gene, confirming Neurofibromatosis type 1-like syndrome. Genetic counseling is recommended.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes in symptomatic individuals. Prenatal testing may require specialized genetic counseling and different approaches.
Is genetic counseling required before taking the test?
Yes, a genetic counseling session is recommended to understand the test implications, draw a family pedigree, and discuss results.
What are the risks associated with the test?
The test involves minimal risks, such as minor bruising from blood draw. There are no significant health risks from the genetic analysis itself.
How accurate is the NGS genetic test for SPRED1 mutations?
NGS technology provides high accuracy in detecting genetic mutations, but results should be interpreted in conjunction with clinical findings.
What should I do if I have a family history of neurofibromatosis?
Consult a healthcare provider or genetic counselor to assess the need for genetic testing and discuss management options.
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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