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SPRED1 Gene Legius syndrome NGS Genetic Test

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SPRED1 Gene Legius syndrome NGS Genetic Test

Short Name: SPRED1 Gene Legius Syndrome Test

Also known as: Neurofibromatosis Type 1-like syndrome, SPRED1-related disorder

SPRED1 Gene Legius syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood, Extracted DNA, FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Next Generation Sequencing🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Legius Syndrome by detecting pathogenic mutations in the SPRED1 gene using NGS technology, aiding in differential diagnosis from similar conditions like NF1.

Test Code
5050
Price
₹20,000
Sample Type
Blood, Extracted DNA, FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history review and genetic counseling session recommended to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample transported to laboratory under ambient conditions for DNA extraction and NGS analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess symptoms and family history.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Report generation followed by genetic counseling to discuss results and implications.

About This Test

Who Should Get This Test

To diagnose Legius Syndrome by detecting pathogenic mutations in the SPRED1 gene using NGS technology, aiding in differential diagnosis from similar conditions like NF1.

How to Prepare

  • No fasting required
  • Provide detailed family and clinical history
  • Ensure proper labeling of sample
  • Use recommended container (EDTA tube or FTA card)

Doctor's Notes

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

"This test is crucial for differentiating Legius Syndrome from Neurofibromatosis Type 1, guiding management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: Stable at 2-8°C for up to 48 hours
FTA card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect or unlabeled container

Understanding Your Results

Results indicate the presence or absence of mutations in the SPRED1 gene associated with Legius Syndrome.
📊

Pathogenic mutation detected

Consistent with a diagnosis of Legius Syndrome; clinical correlation and genetic counseling advised.

📊

No pathogenic mutation detected

Legius Syndrome is unlikely, but further clinical evaluation may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

If genetic test results are positive or symptoms such as skin patches, learning difficulties, or freckling persist, consult a geneticist or dermatologist for management.

Limitations

  • ⚠May not detect all genetic variants in SPRED1
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Potential psychological impact of genetic diagnosis

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample handling

Compare With Similar Tests

TestSPRED1 Gene Legius syndrome NGS Genetic TestNF1 Gene Sequencing Test
ComparisonSPRED1 Gene Legius syndrome NGS Genetic Test

Frequently Asked Questions

What is SPRED1 Gene Legius Syndrome Test?
It is a genetic test using NGS technology to detect mutations in the SPRED1 gene, which causes Legius Syndrome, a disorder affecting skin and nervous system.
What are the common symptoms of Legius Syndrome?
Symptoms include café-au-lait spots, freckling in skin folds, learning difficulties, speech delays, macrocephaly, and benign tumors like neurofibromas.
How is the test performed?
A blood sample or DNA is collected and analyzed using Next Generation Sequencing to identify mutations in the SPRED1 gene.
What is the cost of the SPRED1 Gene test in India?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous cities nationwide.
How long does it take to get 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 mutation in the SPRED1 gene, confirming Legius Syndrome diagnosis, and genetic counseling is recommended.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to draw a family pedigree chart and discuss implications.
Can the test detect all mutations causing Legius Syndrome?
While NGS is comprehensive, it may not detect all possible variants; clinical correlation is advised.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer for details.
What is the difference between Legius Syndrome and Neurofibromatosis Type 1?
Legius Syndrome is caused by SPRED1 mutations and is typically milder, while NF1 is caused by NF1 gene mutations with more severe symptoms.
How should I prepare for the test?
No fasting is required; provide detailed clinical and family history during genetic counseling.
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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