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WAC Gene Desanto-Shinawi syndrome NGS Genetic Test

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WAC Gene Desanto-Shinawi syndrome NGS Genetic Test

Short Name: WAC Gene Desanto-Shinawi Syndrome Test

Also known as: Desanto-Shinawi Syndrome Genetic Test, WAC Gene Mutation Test

WAC Gene Desanto-Shinawi 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.

Pediatric Genetic TestPediatric🏠 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

The purpose of this test is to detect mutations in the WAC gene to confirm a diagnosis of Desanto-Shinawi syndrome, enabling appropriate medical management and genetic counseling.

Test Code
2718
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

No specific preparation required. Provide clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand implications.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Report delivery and follow-up counseling if needed.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the WAC gene to confirm a diagnosis of Desanto-Shinawi syndrome, enabling appropriate medical management and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for Desanto-Shinawi syndrome is crucial for early intervention and family counseling. As an OB-GYN, I recommend it for families with a history of developmental delays."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Room temperature
Refrigerated
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the WAC gene.
📊

Positive

Pathogenic variant detected, consistent with Desanto-Shinawi syndrome.

📊

Negative

No pathogenic variant detected. Clinical correlation recommended.

⚠️ When to Consult a Doctor:

If symptoms of Desanto-Shinawi syndrome are present or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires interpretation by a geneticist
  • ⚠Not a substitute for clinical diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

TestWAC Gene Desanto-Shinawi syndrome NGS Genetic TestWhole Exome SequencingChromosomal Microarray
ComparisonWAC Gene Desanto-Shinawi syndrome NGS Genetic Test

Frequently Asked Questions

What is Desanto-Shinawi syndrome?
Desanto-Shinawi syndrome is a rare genetic disorder caused by mutations in the WAC gene, leading to intellectual and physical disabilities.
What causes Desanto-Shinawi syndrome?
It is caused by mutations in the WAC gene, which is involved in regulating gene expression.
What are the symptoms of Desanto-Shinawi syndrome?
Common symptoms include intellectual disability, delayed speech, behavioral problems, seizures, gastrointestinal issues, dysmorphic features, low muscle tone, joint hypermobility, and vision problems.
How is Desanto-Shinawi syndrome diagnosed?
Diagnosis is through genetic testing, specifically Next-Generation Sequencing (NGS) to identify mutations in the WAC gene.
What is the WAC gene?
The WAC gene provides instructions for making a protein that regulates gene expression, and mutations can lead to Desanto-Shinawi syndrome.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a highly accurate method for detecting genetic mutations by sequencing DNA.
What is the cost of the WAC Gene Desanto-Shinawi Syndrome NGS Genetic Test?
The cost is INR 20000 at DNA Labs India, with possible variations by facility.
Is the test covered by insurance?
Some insurance companies may cover genetic testing, but it varies. Check with your provider for coverage options.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What should I do if the test is positive?
Consult a healthcare provider or genetic counselor for further evaluation, management, and family planning advice.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis. For prenatal testing, consult a genetic specialist for appropriate 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.

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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