DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic Test
Short Name: DYNC2H1 SRTD3 NGS Test
Also known as: Short-rib thoracic dysplasia type 3, SRTD3, Polydactyly with short-rib dysplasia, DYNC2H1-related ciliopathy
DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose Short-rib thoracic dysplasia type 3 with or without polydactyly by identifying pathogenic mutations in the DYNC2H1 gene using NGS technology.
- Test Code
- 2817
- 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 Technology
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Venipuncture or Finger prick
Laboratory Analysis
Blood sample collected via venipuncture or finger prick.
Report Delivery
Apply pressure to the collection site to prevent bleeding.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Short-rib thoracic dysplasia type 3 with or without polydactyly by identifying pathogenic mutations in the DYNC2H1 gene using NGS technology.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for diagnosing skeletal dysplasias and guiding management strategies for affected individuals and families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
If symptoms of short-rib thoracic dysplasia are present or if there is a family history of the disorder.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising at blood collection site
- ●Rare risk of infection
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample storage
Frequently Asked Questions
What is the DYNC2H1 Gene SRTD3 NGS Test?
Why is this test important?
What are the symptoms of Short-rib thoracic dysplasia type 3?
How is the test performed?
What sample is required?
Is fasting required for the test?
How long does it take to get results?
What does a positive result mean?
Can this test be done during pregnancy?
Is home sample collection available?
What is the cost of the test?
How accurate is the NGS technology?
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₹20,000Reference 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.
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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