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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

Also known as: Legius syndrome

SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS 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

🩺 Medically Reviewed By

Overview

To detect mutations in the SPRED1 gene for the diagnosis of Neurofibromatosis type 1-like syndrome (Legius syndrome), enabling early intervention and personalized management.

Test Code
2913
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
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Neurofibromatosis type 1-like syndrome.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:A blood sample or DNA sample is collected for analysis.
3
After the Test:Results are available in 3 to 4 weeks; follow-up with a genetic specialist is advised.

About This Test

Who Should Get This Test

To detect mutations in the SPRED1 gene for the diagnosis of Neurofibromatosis type 1-like syndrome (Legius syndrome), enabling early intervention and personalized management.

Doctor's Notes

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

"Genetic testing is crucial for early diagnosis and management of genetic disorders like Neurofibromatosis type 1-like syndrome, enabling personalized treatment and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SPRED1 gene. A positive result confirms a diagnosis of Neurofibromatosis type 1-like syndrome, while a negative result suggests no mutations detected, but clinical correlation is advised.
📊

Negative

No pathogenic variants detected in the SPRED1 gene. Clinical symptoms may be due to other causes; further evaluation recommended.

📊

Positive

Pathogenic variant(s) identified in the SPRED1 gene, confirming Neurofibromatosis type 1-like syndrome. Genetic counseling and management planning are advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibit symptoms such as café-au-lait spots, freckling, neurofibromas, or have a family history of Neurofibromatosis type 1-like syndrome for appropriate genetic testing and management.

Frequently Asked Questions

What is Neurofibromatosis type 1-like syndrome?
Neurofibromatosis type 1-like syndrome, or Legius syndrome, is a rare genetic disorder caused by SPRED1 gene mutations, leading to symptoms like café-au-lait spots and freckling.
How is the SPRED1 Gene NGS Genetic Test performed?
The test analyzes a blood or DNA sample using Next-Generation Sequencing (NGS) to detect mutations in the SPRED1 gene.
What is the cost of the SPRED1 Gene NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Who should consider this genetic test?
Individuals with symptoms such as café-au-lait spots, freckling, neurofibromas, or a family history of Neurofibromatosis type 1-like syndrome should consider testing.
Is fasting required for the test?
No, fasting is not required for the SPRED1 Gene NGS Genetic Test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms the presence of pathogenic variants in the SPRED1 gene, indicating Neurofibromatosis type 1-like syndrome. Genetic counseling is recommended.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes; prenatal testing may require specialized genetic counseling and different methods.
What are the benefits of early diagnosis?
Early diagnosis allows for personalized treatment, monitoring of symptoms, reduced complications, and informed family planning.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not universally covered. Check with your insurer for details.
How accurate is the SPRED1 Gene NGS Genetic Test?
The test is highly accurate and reliable for detecting mutations in the SPRED1 gene using advanced NGS technology.
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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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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