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WDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

WDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic Test

Short Name: WDR19 CED Type 4 NGS Test

Also known as: CED Type 4, Cranioectodermal Dysplasia 4, Sensenbrenner Syndrome Type 4

WDR19 Gene Cranioectodermal dysplasia type 4 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the WDR19 gene to diagnose Cranioectodermal Dysplasia Type 4, aiding in clinical management and genetic counseling.

Test Code
5738
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 is required. Inform the healthcare provider about any medications or medical conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session is recommended before testing to understand implications.
2
During the Test:DNA is extracted from the sample and subjected to NGS for WDR19 gene analysis.
3
After the Test:Results are reviewed by a clinical geneticist and a detailed report is generated.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the WDR19 gene to diagnose Cranioectodermal Dysplasia Type 4, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure patient identification is correct
  • Use aseptic technique
  • Label the sample properly

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for WDR19 mutations is essential for confirming diagnosis of Cranioectodermal Dysplasia Type 4, enabling personalized management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Room Temperature
Refrigerated
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

The test results indicate whether pathogenic variants in the WDR19 gene are present, which are associated with Cranioectodermal Dysplasia Type 4.
📊

Pathogenic Variant Detected

Confirms diagnosis of CED Type 4. Genetic counseling recommended.

📊

Variant of Uncertain Significance (VUS)

Further testing or family studies may be needed.

📊

No Pathogenic Variant Detected

CED Type 4 is unlikely, but clinical evaluation should continue if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms of CED are observed or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require interpretation by a geneticist
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Psychological distress from results
  • ●Potential for genetic discrimination
  • ●Minimal physical risk from blood draw

Interfering Factors

  • ●Poor sample quality
  • ●DNA degradation
  • ●Contamination during sample handling

Compare With Similar Tests

TestWDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic TestSanger SequencingWhole Exome Sequencing
ComparisonWDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic Test

Frequently Asked Questions

What is Cranioectodermal Dysplasia Type 4?
Cranioectodermal Dysplasia Type 4 is a rare genetic disorder affecting bones, skin, hair, nails, and teeth, caused by mutations in the WDR19 gene.
What causes CED Type 4?
CED Type 4 is caused by pathogenic mutations in the WDR19 gene, which is involved in cilia function.
What are the symptoms of CED Type 4?
Symptoms include abnormal skull and facial bones, short stature, scoliosis, abnormalities of fingers and toes, and dental and nail issues.
How is CED Type 4 diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS of the WDR19 gene, along with clinical evaluation.
What is the WDR19 gene?
The WDR19 gene provides instructions for making a protein essential for cilia development and function.
What does the NGS genetic test involve?
The test uses Next-Generation Sequencing to analyze the WDR19 gene for mutations from a blood or DNA sample.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate the presence or absence of pathogenic variants in the WDR19 gene, guiding diagnosis and management.
Is genetic counseling provided?
Yes, a genetic counseling session is included to discuss results and implications.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require specialized consultation.
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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