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WDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic Test

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WDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic Test

Short Name: WDR34 Gene SRTD11 NGS Test

Also known as: Short-rib thoracic dysplasia type 11, SRTD11, WDR34-related disorder

WDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

PediatricsPediatric🏠 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 diagnose Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly by detecting mutations in the WDR34 gene using Next-Generation Sequencing (NGS) technology.

Test Code
2820
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Sample collection via venipuncture for blood or application of one drop of blood on an FTA card.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and review of clinical history and family pedigree.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation, delivery, and follow-up genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To diagnose Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly by detecting mutations in the WDR34 gene using Next-Generation Sequencing (NGS) technology.

How to Prepare

  • Ensure proper patient identification and labeling
  • Use sterile collection equipment
  • Follow aseptic techniques to avoid contamination
  • Store samples as per stability guidelines

Doctor's Notes

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

"Early genetic testing for WDR34 mutations is crucial for timely intervention, symptom management, and informed family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Interpretation of genetic test results for WDR34 mutations helps confirm diagnosis and guide clinical management.
📊

Pathogenic variant detected

Confirms diagnosis of Short-rib thoracic dysplasia type 11; genetic counseling recommended for family planning.

📊

No pathogenic variant detected

Disorder unlikely based on this gene, but clinical correlation and further testing may be needed.

⚠️ When to Consult a Doctor:

If symptoms are present, family history is positive, or for carrier testing, consult a geneticist or pediatrician for evaluation and counseling.

Limitations

  • ⚠Test may not detect all possible mutations in the WDR34 gene
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results on individuals and families

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type or collection method

Compare With Similar Tests

TestWDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic TestOther SRTD gene tests
ComparisonWDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic Test

Frequently Asked Questions

What is WDR34 Gene Short-rib thoracic dysplasia type 11?
It is a rare genetic disorder caused by mutations in the WDR34 gene, leading to bone development issues in the thorax and limbs.
How is the NGS genetic test performed?
The test analyzes DNA from blood or saliva samples using Next-Generation Sequencing to detect mutations in the WDR34 gene.
What are the common symptoms of this disorder?
Symptoms include short stature, scoliosis, narrow chest, respiratory problems, polydactyly, abnormal limbs, and potential heart or brain defects.
Who should consider getting tested?
Individuals with a family history of the disorder, those showing symptoms, or for carrier testing in families.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
What does a positive test result mean?
A positive result confirms the presence of pathogenic WDR34 mutations, indicating the disorder; genetic counseling is recommended.
What if the test result is negative?
A negative result suggests no pathogenic variants in the WDR34 gene, but clinical correlation and further evaluation may be needed.
Is genetic counseling necessary before and after testing?
Yes, genetic counseling is advised to understand implications, interpret results, and discuss family planning.
Can this test be used for carrier testing?
Yes, it can identify carriers of WDR34 mutations, which is important for family risk assessment.
What are the risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising; psychological impact of results should be considered.
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

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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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