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WDR19 Gene Short-rib thoracic dysplasia type 5 with or without polydactyly NGS Genetic Test

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WDR19 Gene Short-rib thoracic dysplasia type 5 with or without polydactyly NGS Genetic Test

Short Name: WDR19 Gene SRTD5 NGS Test

Also known as: SRTD5, Short-rib thoracic dysplasia type 5, WDR19-related disorder

WDR19 Gene Short-rib thoracic dysplasia type 5 with or without polydactyly NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood, 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 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 diagnose Short-rib thoracic dysplasia type 5 (SRTD5) by detecting pathogenic mutations in the WDR19 gene using next-generation sequencing (NGS). It aids in confirming the genetic basis of the disorder, guiding clinical management, and facilitating family planning and genetic counseling.

Test Code
2811
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation required. Provide clinical history and undergo genetic counseling as recommended.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw or finger prick procedure performed by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the collection site to stop bleeding. Store sample as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Sample collection via blood draw or finger prick.
3
After the Test:Wait for results in 3 to 4 weeks. Discuss findings with a healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Short-rib thoracic dysplasia type 5 (SRTD5) by detecting pathogenic mutations in the WDR19 gene using next-generation sequencing (NGS). It aids in confirming the genetic basis of the disorder, guiding clinical management, and facilitating family planning and genetic counseling.

How to Prepare

  • Provide detailed clinical history of the patient
  • Attend a genetic counseling session to draw a pedigree chart
  • Ensure sample is collected in appropriate container
  • Label sample correctly with patient details

Doctor's Notes

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

"Early genetic testing for SRTD5 can guide management, inform family planning, and improve outcomes for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample VolumeStandard volume as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container or labeling
  • Sample contamination

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the WDR19 gene. A positive result confirms a diagnosis of SRTD5, while a negative result may require further testing if clinical suspicion remains high.
📊

Positive

Pathogenic variants detected in WDR19 gene, confirming SRTD5 diagnosis.

📊

Negative

No pathogenic variants detected; consider other genetic causes or clinical evaluation.

📊

Variant of Uncertain Significance (VUS)

Genetic variant found but significance unclear; further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms of SRTD5 are present, after receiving test results, or for family planning advice.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions/duplications)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at collection site
  • ●Infection risk (very low)
  • ●Emotional impact of results

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Insufficient sample volume

Frequently Asked Questions

What is Short-rib thoracic dysplasia type 5 (SRTD5)?
SRTD5 is a rare genetic disorder caused by mutations in the WDR19 gene, leading to skeletal abnormalities such as short ribs, small chest, and short limbs, often with polydactyly.
What causes SRTD5?
SRTD5 is caused by mutations in the WDR19 gene, which is involved in cilia function. It is inherited in an autosomal recessive pattern.
What are the common symptoms of SRTD5?
Symptoms include short stature, shortened ribs, small chest, short limbs, polydactyly, respiratory issues, and potential heart or kidney defects.
How is SRTD5 diagnosed?
Diagnosis involves clinical evaluation, imaging studies (X-rays, CT scans), and genetic testing to confirm mutations in the WDR19 gene.
What is the NGS Genetic Test for SRTD5?
It is a next-generation sequencing test that analyzes the WDR19 gene to detect mutations, providing accurate diagnosis for SRTD5.
What is the cost of the WDR19 Gene SRTD5 NGS Test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY or CGHS. Check with your private insurance provider.
What should I do if the test result is positive?
A positive result confirms SRTD5. Consult a geneticist or specialist for management options, genetic counseling, and family planning.
Can SRTD5 be prevented?
As a genetic disorder, it cannot be prevented, but early diagnosis and genetic counseling can help manage risks and inform family planning.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to understand the test, draw a family pedigree, and discuss implications of results.
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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