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WASHC5 Gene Ritscher-Schinzel syndrome type 1 NGS Genetic Test

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WASHC5 Gene Ritscher-Schinzel syndrome type 1 NGS Genetic Test

Short Name: Ritscher-Schinzel Syndrome Type 1 Genetic Test

Also known as: Cranio-Cerebello-Cardiac Syndrome

WASHC5 Gene Ritscher-Schinzel syndrome type 1 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.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the WASHC5 gene that cause Ritscher-Schinzel Syndrome Type 1, aiding in diagnosis and management.

Test Code
2792
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 detailed clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick.

Step 3

Report Delivery

Sample sent to laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Blood sample collection and processing.
3
After the Test:Laboratory analysis and report generation.

About This Test

Who Should Get This Test

To identify mutations in the WASHC5 gene that cause Ritscher-Schinzel Syndrome Type 1, aiding in diagnosis and management.

How to Prepare

  • Ensure proper sample labeling
  • Follow aseptic techniques
  • Transport sample at ambient temperature

Doctor's Notes

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

"Genetic testing for Ritscher-Schinzel Syndrome is crucial for accurate diagnosis and management, especially in pediatric cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: stable at room temperature for 24 hours
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

The test results indicate whether mutations are present in the WASHC5 gene. A positive result confirms the diagnosis of Ritscher-Schinzel Syndrome Type 1.
📊

Positive

Mutation detected in WASHC5 gene, consistent with Ritscher-Schinzel Syndrome Type 1.

📊

Negative

No mutation detected, but clinical symptoms may warrant further testing or evaluation.

⚠️ When to Consult a Doctor:

If the test is positive or if symptoms persist despite negative results, consult a geneticist or pediatric specialist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Ritscher-Schinzel Syndrome Type 1?
It is a rare genetic disorder caused by mutations in the WASHC5 gene, affecting multiple body systems including the brain, heart, and limbs.
What causes this syndrome?
Mutations in the WASHC5 gene lead to abnormal protein function, disrupting normal development.
What are the common symptoms?
Symptoms include cleft palate, heart defects, abnormalities of fingers and toes, intellectual disability, and delayed growth.
How is Ritscher-Schinzel Syndrome diagnosed?
Diagnosis is through genetic testing, specifically NGS analysis of the WASHC5 gene.
What is the WASHC5 gene?
The WASHC5 gene provides instructions for a protein essential for cell function and development.
What does the NGS Genetic Test involve?
It involves sequencing the WASHC5 gene from a blood or DNA sample to detect mutations.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What should I do before the test?
Provide clinical history and undergo genetic counseling to understand the test and implications.
What do the results mean?
A positive result indicates a mutation in the WASHC5 gene, confirming the syndrome. Negative means no mutation detected, but clinical correlation is needed.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to interpret results and discuss implications.
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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