EXT1 Gene Langer-Giedion syndrome NGS Genetic Test
Short Name: EXT1 NGS
Also known as: LGS Genetic Test, EXT1 Gene Sequencing, Trichorhinophalangeal Syndrome Type II Genetic Test
EXT1 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 3 to 4 weeks from sample receipt at the laboratory.. 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 NGS genetic test is to detect pathogenic variants or deletions in the EXT1 gene that are associated with Langer-Giedion Syndrome. It aids in confirming a clinical diagnosis, providing prognostic information, and enabling informed genetic counseling for affected families.
- Test Code
- 5822
- CPT Code
- 81408
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history and genetic counseling session is mandatory before the test.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.
Report Delivery
No specific precautions. The sample is sent to the laboratory for analysis.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants or deletions in the EXT1 gene that are associated with Langer-Giedion Syndrome. It aids in confirming a clinical diagnosis, providing prognostic information, and enabling informed genetic counseling for affected families.
How to Prepare
- Ensure the patient's identity is verified.
- Use sterile equipment for blood collection.
- If using FTA card, allow the blood spot to dry completely before packaging.
- Label the sample with patient's name and unique ID.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of Langer-Giedion syndrome is crucial for managing skeletal and developmental complications. This NGS test provides a definitive diagnosis, enabling timely intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive
Pathogenic variant detected; confirms diagnosis of LGS. Genetic counseling recommended for family.
Negative
No pathogenic variant found; LGS due to EXT1 is unlikely. Consider other genetic tests.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing of family members may help.
Consult a geneticist or pediatrician if your child shows features such as multiple bony lumps, short stature, unusual facial features, or developmental delays. Early referral for genetic testing can aid in management.
Limitations
- ⚠This test detects variants in the EXT1 gene only; other genes or regulatory regions are not analyzed.
- ⚠Large deletions may not be detected by NGS alone; additional methods like MLPA may be required.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test does not assess the severity or progression of the disease.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for incidental findings
Interfering Factors
- ●Contamination of sample during collection
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
Compare With Similar Tests
| Test | EXT1 Gene Langer-Giedion syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | Sanger Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | EXT1 Gene Langer-Giedion syndrome NGS Genetic Test |
Frequently Asked Questions
What is Langer-Giedion Syndrome?
How is the EXT1 gene related to LGS?
What are the common symptoms of LGS?
Who should get this genetic test?
What is the cost of the EXT1 NGS test at DNA Labs India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
Can the test be done at home?
What does a positive result mean?
Are there any risks associated with the test?
Is this test covered by insurance?
Related Tests
MSX2 Gene Craniosynostosis type 2 NGS Genetic Test
₹20,000EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test
₹20,000FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test
₹20,000TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test
₹20,000ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
₹20,000PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic Test
₹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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.