COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type NGS Genetic Test
Short Name: COL2A1 Torrance Type NGS
Also known as: COL2A1 Gene Test, Torrance Type Dysplasia NGS, Platyspondylic Skeletal Dysplasia Genetic Test
COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type 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 Reports are delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify pathogenic variants in the COL2A1 gene that cause Platyspondylic skeletal dysplasia, Torrance type. This test aids in confirming a clinical diagnosis, differentiating from other skeletal dysplasias, and providing information for genetic counseling and recurrence risk assessment.
- Test Code
- 5905
- CPT Code
- 81408
- ICD Code
- Q77.7
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. A genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample is collected by venipuncture or a drop of blood is placed on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific post-collection precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic variants in the COL2A1 gene that cause Platyspondylic skeletal dysplasia, Torrance type. This test aids in confirming a clinical diagnosis, differentiating from other skeletal dysplasias, and providing information for genetic counseling and recurrence risk assessment.
How to Prepare
- Ensure patient identification is correct
- Use EDTA vacutainer for blood collection
- If using FTA card, allow blood spot to dry completely
- Label sample with patient name and date of birth
- Transport at ambient temperature within 24 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of COL2A1-related disorders is crucial for management and family counseling. NGS provides comprehensive analysis of the gene, aiding in precise diagnosis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrectly labeled sample
- Sample received after prolonged delay
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of COL2A1-related skeletal dysplasia. Genetic counseling recommended for family planning.
Likely pathogenic variant detected
High likelihood of disease; further evidence may be needed for definitive classification.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional testing or family studies may be required.
No pathogenic variant detected
No disease-causing variant identified in COL2A1. Other genetic causes should be considered.
Consult a geneticist or pediatrician if your child shows symptoms such as short stature, skeletal deformities, or if there is a family history of skeletal dysplasia. Early consultation can lead to timely diagnosis and management.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further analysis
- ⚠Negative result does not exclude all genetic causes of skeletal dysplasia
- ⚠Test is not intended for carrier screening
Risks & Considerations
- ●Bruising or bleeding at the puncture site
- ●Infection (rare)
- ●Psychological impact of genetic results
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants in non-coding regions may not be detected
Compare With Similar Tests
| Test | COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type NGS Genetic Test | Skeletal Dysplasia Panel | COL2A1 Targeted Mutation Analysis |
|---|---|---|---|
| Comparison | COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type NGS Genetic Test |
Frequently Asked Questions
What is the cost of the COL2A1 gene NGS genetic test?
What sample is required for this test?
How long does it take to get the report?
Is fasting required before the test?
What is Platyspondylic skeletal dysplasia, Torrance type?
Who should consider this test?
Does the test detect all types of COL2A1 mutations?
Is genetic counseling included?
Can this test be done during pregnancy?
Is home sample collection available?
What is the turnaround time for reports?
Are there any risks associated with the test?
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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.
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