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MAGEL2 Gene Schaaf-Yang syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MAGEL2 Gene Schaaf-Yang syndrome NGS Genetic Test

Short Name: MAGEL2 Gene Test

Also known as: MAGEL2-related disorders, Schaaf-Yang syndrome

MAGEL2 Gene Schaaf-Yang syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (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.

Next-Generation Sequencing (NGS)Pediatric🏠 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 identify mutations in the MAGEL2 gene for diagnosis of Schaaf-Yang syndrome, enabling early intervention, management, and genetic counseling.

Test Code
2800
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample processed for DNA extraction and NGS analysis. Reports delivered in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review recommended.
2
During the Test:Blood sample collection for DNA extraction and NGS analysis.
3
After the Test:Report generation and genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To identify mutations in the MAGEL2 gene for diagnosis of Schaaf-Yang syndrome, enabling early intervention, management, and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Avoid hemolysis during blood draw
  • Store samples at ambient temperature if not processed immediately

Doctor's Notes

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

"Early genetic testing for Schaaf-Yang syndrome can guide management, family planning, and connect families with support resources."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MAGEL2 gene. A positive result confirms genetic basis for Schaaf-Yang syndrome, while a negative result does not rule out the condition entirely.
Positive: Pathogenic variant detected, consistent with Schaaf-Yang syndrome diagnosis.
Negative: No pathogenic variant detected; clinical correlation and further testing may be needed.
Variant of uncertain significance (VUS): Requires additional family studies and clinical evaluation.
⚠️ When to Consult a Doctor:

If symptoms of Schaaf-Yang syndrome are present, such as intellectual disability, developmental delay, or distinct facial features, consult a geneticist or pediatrician for evaluation.

Limitations

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

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestMAGEL2 Gene Schaaf-Yang syndrome NGS Genetic TestPrader-Willi Syndrome Genetic TestWhole Exome SequencingChromosomal Microarray Analysis
ComparisonMAGEL2 Gene Schaaf-Yang syndrome NGS Genetic Test

Frequently Asked Questions

What is Schaaf-Yang syndrome?
Schaaf-Yang syndrome is a rare genetic disorder caused by mutations in the MAGEL2 gene, leading to intellectual disability, speech difficulties, and behavioral issues.
What causes Schaaf-Yang syndrome?
It is caused by mutations in the MAGEL2 gene, which is involved in brain development.
What are the common symptoms?
Symptoms include intellectual disability, speech delays, behavioral problems, developmental delay, distinct facial features, and low muscle tone.
How is Schaaf-Yang syndrome diagnosed?
Diagnosis is typically through genetic testing, such as the MAGEL2 Gene NGS Genetic Test, to identify mutations in the MAGEL2 gene.
What does the MAGEL2 Gene NGS Genetic Test involve?
It uses next-generation sequencing to analyze the MAGEL2 gene for mutations, requiring a blood or DNA sample.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is needed.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to discuss implications and results.
What if the test result is negative?
A negative result does not rule out Schaaf-Yang syndrome; clinical evaluation and further testing may be necessary.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers transparent pricing.
How can I book the test?
Book online via DNA Labs India's website or contact them for home sample collection across India.
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.

LIMS Integration

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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