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WDR35 Gene Short-rib thoracic dysplasia type 7 with or without polydactyly NGS Genetic Test

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WDR35 Gene Short-rib thoracic dysplasia type 7 with or without polydactyly NGS Genetic Test

Short Name: WDR35 Gene SRTD7 NGS Genetic Test

Also known as: Short-rib thoracic dysplasia type 7, SRTD7, WDR35-related skeletal dysplasia

WDR35 Gene Short-rib thoracic dysplasia type 7 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.

NGS Genetic TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the WDR35 gene to confirm a diagnosis of short-rib thoracic dysplasia type 7 with or without polydactyly, enabling early intervention, genetic counseling, and family planning.

Test Code
2813
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 family members affected with SRTD7.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card, following standard phlebotomy procedures.

Step 3

Report Delivery

Sample labeled and transported to the lab under ambient room temperature conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or FTA card; minimal discomfort expected.
3
After the Test:Results available in 3-4 weeks; follow-up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the WDR35 gene to confirm a diagnosis of short-rib thoracic dysplasia type 7 with or without polydactyly, enabling early intervention, genetic counseling, and family planning.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes
  • Label samples accurately
  • Transport at ambient temperature

Doctor's Notes

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

"This test is essential for early diagnosis and management of skeletal dysplasias in pediatric patients, aiding in genetic counseling and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples stable for 7 days at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the WDR35 gene. Positive results confirm SRTD7 diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of SRTD7; genetic counseling recommended.

📊

No pathogenic variant detected

SRTD7 unlikely but clinical correlation needed; consider other genetic tests.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as short ribs, small chest, or polydactyly are present, or if family history suggests skeletal dysplasia.

Limitations

  • May not detect all genetic variants
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Incorrect sample handling

Frequently Asked Questions

What is the WDR35 Gene SRTD7 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the WDR35 gene, which causes short-rib thoracic dysplasia type 7 with or without polydactyly.
Who should consider this test?
Individuals with symptoms like short ribs, small chest, short limbs, or polydactyly, or those with a family history of skeletal dysplasias.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection across India.
How is the sample collected?
Samples are collected via blood draw or one drop on an FTA card, with home collection available.
What is the turnaround time for results?
Results are typically available in 3 to 4 weeks.
Is fasting required for this test?
No, fasting is not required.
What do positive results mean?
Positive results confirm a diagnosis of SRTD7, indicating mutations in the WDR35 gene.
What if the test is negative?
Negative results suggest SRTD7 is unlikely, but clinical correlation and further testing may be needed.
Is genetic counseling provided?
Yes, genetic counseling is included to help interpret results and plan next steps.
Can this test be done for prenatal diagnosis?
Consult a healthcare provider; prenatal testing may be possible but requires specialized procedures.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting gene mutations, but results should be interpreted by a genetic specialist.
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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