TRPS1 Gene Langer-Giedion syndrome NGS Genetic Test
Short Name: TRPS1 NGS Test
Also known as: Langer-Giedion Syndrome Genetic Test, TRPS II NGS Test, TRPS1 Gene Sequencing
TRPS1 Gene Langer-Giedion syndrome 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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. 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 confirm or rule out a clinical diagnosis of Langer-Giedion Syndrome by identifying pathogenic mutations in the TRPS1 gene. It aids in early diagnosis, guides medical management, and provides crucial information for genetic counseling and family planning.
- Test Code
- 5823
- CPT Code
- 81407
- ICD Code
- Q87.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test and to draw a pedigree chart of affected family members.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A small blood sample (2-3 ml) will be collected by a trained phlebotomist. For FTA card, a single drop of blood is applied to the card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. The sample will be sent to the laboratory for analysis. Results are typically available within 3-4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to confirm or rule out a clinical diagnosis of Langer-Giedion Syndrome by identifying pathogenic mutations in the TRPS1 gene. It aids in early diagnosis, guides medical management, and provides crucial information for genetic counseling and family planning.
How to Prepare
- Ensure the patient's identity is verified before sample collection
- Use EDTA tube for blood collection or FTA card for dried blood spot
- Label the sample with patient's name, date of birth, and collection date
- Transport the sample to the laboratory at ambient temperature
- Avoid hemolysis or clotting of the blood sample
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of Langer-Giedion syndrome is crucial for managing skeletal, facial, and developmental manifestations. This NGS test provides comprehensive TRPS1 gene analysis to guide clinical care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Langer-Giedion Syndrome. Genetic counseling is recommended for the patient and family.
Variant of uncertain significance (VUS)
Further testing of family members may be needed to clarify the significance. Clinical correlation is essential.
No pathogenic variant detected
Reduces likelihood of TRPS1-related LGS, but other genetic causes should be considered if symptoms persist.
Consult a geneticist or pediatrician if you or your child exhibits symptoms suggestive of Langer-Giedion Syndrome, such as short stature, unusual facial features, skeletal abnormalities, or developmental delays. Early genetic testing can aid in diagnosis and management.
Limitations
- ⚠NGS may not detect all types of mutations (e.g., large structural variants, deep intronic variants)
- ⚠Variants of uncertain significance may require further family studies
- ⚠Test does not assess the severity or progression of symptoms
- ⚠Results should be interpreted in the context of clinical findings and family history
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination during sample collection
- ●Incomplete clinical information provided
- ●Presence of large deletions/duplications not detected by standard NGS (may require additional testing)
Compare With Similar Tests
| Test | TRPS1 Gene Langer-Giedion syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | Sanger Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | TRPS1 Gene Langer-Giedion syndrome NGS Genetic Test | CMA detects copy number variations (deletions/duplications) across the genome, which may identify large deletions involving TRPS1. However, it does not detect point mutations. NGS is more sensitive for single nucleotide variants. | Sanger sequencing is a targeted method for known mutations but is less efficient for large genes. NGS can sequence the entire TRPS1 gene in a single run, making it more comprehensive and cost-effective. | WES analyzes all coding regions of the genome, which may identify TRPS1 mutations along with other potential genetic causes. However, it is more expensive and may have longer turnaround times. |
Frequently Asked Questions
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Can I get a home sample collection?
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₹20,000Reference Laboratory Services
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