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WDR60 Gene Short-rib thoracic dysplasia type 8 with or without polydactyly NGS Genetic Test

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WDR60 Gene Short-rib thoracic dysplasia type 8 with or without polydactyly NGS Genetic Test

Short Name: WDR60 Gene SRTD8 NGS Test

Also known as: Short-rib thoracic dysplasia type 8, SRTD8, Polydactyly with short ribs

WDR60 Gene Short-rib thoracic dysplasia type 8 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

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify genetic mutations in the WDR60 gene that cause Short-rib thoracic dysplasia type 8, aiding in diagnosis, treatment planning, and genetic counseling.

Test Code
2816
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

No specific preparation required. Provide clinical history and family pedigree.

Method: Venipuncture for blood, or FTA card collection

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or use of FTA card as per instructions.

Step 3

Report Delivery

Apply pressure to puncture site. Store sample as instructed for stability.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor, provide detailed medical and family history.
2
During the Test:Sample collection as per standard procedures, minimal discomfort.
3
After the Test:Wait for results, follow up with genetic counseling for interpretation and next steps.

About This Test

Who Should Get This Test

To identify genetic mutations in the WDR60 gene that cause Short-rib thoracic dysplasia type 8, aiding in diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • No fasting needed
  • Bring identification and prescription
  • Inform about any medications or health conditions

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing Short-rib thoracic dysplasia type 8 and providing appropriate care and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood, or FTA card collection

Sample Stability

Blood sample stable for 24 hours at room temperature
FTA card stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the WDR60 gene, which are associated with Short-rib thoracic dysplasia type 8.
Positive: Pathogenic variant detected, consistent with SRTD8 diagnosis
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies may be required
⚠️ When to Consult a Doctor:

If symptoms persist, if genetic counseling is needed post-test, or for family planning advice.

Limitations

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

Risks & Considerations

  • ●Minimal risk from blood draw such as bruising
  • ●Psychological impact of results, addressed through counseling

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Technical errors in sequencing

Compare With Similar Tests

TestWDR60 Gene Short-rib thoracic dysplasia type 8 with or without polydactyly NGS Genetic TestWhole Exome SequencingSkeletal Dysplasia Gene Panel
ComparisonWDR60 Gene Short-rib thoracic dysplasia type 8 with or without polydactyly NGS Genetic Test

Frequently Asked Questions

What is the WDR60 Gene SRTD8 NGS Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the WDR60 gene for mutations causing Short-rib thoracic dysplasia type 8.
Who should consider this test?
Individuals with symptoms like short stature, breathing issues, limb abnormalities, or a family history of SRTD8.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology in a certified lab.
What is the cost of the test?
The test costs INR 20,000, which includes analysis, counseling, and support.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
What do the results mean?
Results indicate if pathogenic mutations in the WDR60 gene are present, aiding in diagnosis. Genetic counseling is recommended for interpretation.
Is genetic counseling included?
Yes, the cost includes necessary genetic counseling and support for patients and families.
What are the symptoms of SRTD8?
Symptoms include short stature, breathing difficulties, polydactyly, chest/spine deformities, and developmental delays.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings if indicated, but consultation with a specialist is required.
What if the test is negative but symptoms persist?
Further clinical evaluation or additional genetic testing may be needed, as not all mutations may be detected.
How accurate is the NGS test?
NGS technology is highly accurate for detecting genetic mutations, but results should be correlated with clinical findings.
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.

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✓ 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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