IFT172 Gene Short-rib thoracic dysplasia type 10 with or without polydactyly NGS Genetic Test
Short Name: IFT172 Gene SRTD10 NGS Genetic Test
Also known as: SRTD10, Short-rib thoracic dysplasia type 10, IFT172-related ciliopathy
IFT172 Gene Short-rib thoracic dysplasia type 10 with or without polydactyly NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the IFT172 gene to confirm a diagnosis of Short-rib thoracic dysplasia type 10 with or without polydactyly, guide clinical management, and provide information for genetic counseling and family planning.
- Test Code
- 2814
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Short-rib thoracic dysplasia type 10.
Method: Venipuncture or finger-prick for FTA card
Laboratory Analysis
Standard blood draw via venipuncture or a finger-prick for FTA card collection.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as per instructions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the IFT172 gene to confirm a diagnosis of Short-rib thoracic dysplasia type 10 with or without polydactyly, guide clinical management, and provide information for genetic counseling and family planning.
How to Prepare
- Provide detailed clinical history
- Attend genetic counseling session
- Ensure sample is collected in appropriate container
- Label samples correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis through NGS testing is crucial for managing symptoms, providing genetic counseling, and informing family planning decisions for rare ciliopathies like SRTD10."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improperly labeled samples
- Contaminated samples
Understanding Your Results
Positive (pathogenic variant detected)
Confirms diagnosis of Short-rib thoracic dysplasia type 10. Genetic counseling recommended.
Negative (no pathogenic variant detected)
Does not rule out the condition; consider other genetic tests or clinical evaluation.
Variant of uncertain significance (VUS)
Further analysis and family studies may be needed for clarification.
If symptoms such as short stature, narrow chest, or polydactyly are present, or if there is a family history of skeletal dysplasias. Consult a geneticist or pediatric specialist for evaluation.
Limitations
- ⚠May not detect all types of genetic variants (e.g., deep intronic mutations)
- ⚠Results require clinical correlation
- ⚠Cannot predict disease severity or progression
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | IFT172 Gene Short-rib thoracic dysplasia type 10 with or without polydactyly NGS Genetic Test | Whole Exome Sequencing | Skeletal Dysplasia Gene Panel | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | IFT172 Gene Short-rib thoracic dysplasia type 10 with or without polydactyly NGS Genetic Test |
Frequently Asked Questions
What is Short-rib thoracic dysplasia type 10?
How is the IFT172 gene test performed?
What is the cost of this genetic test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What are the common symptoms of this condition?
Who should consider getting this genetic test?
Is genetic counseling required before the test?
What does a positive test result mean?
Can this test detect all mutations in the IFT172 gene?
Is the test covered by insurance schemes like PMJAY or CGHS?
How accurate is the NGS genetic test for this condition?
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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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