CHSY1 Gene Temtamy preaxial brachydactyly syndrome NGS Genetic Test
Short Name: CHSY1 NGS Test
Also known as: CHSY1 Gene Mutation Test, Temtamy Syndrome Genetic Test, Preaxial Brachydactyly NGS Panel
CHSY1 Gene Temtamy preaxial brachydactyly 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 Reports are typically 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 test is to detect mutations in the CHSY1 gene that are associated with Temtamy preaxial brachydactyly syndrome. It aids in confirming a clinical diagnosis, identifying carriers, and providing information for prenatal diagnosis and genetic counseling.
- Test Code
- 5951
- CPT Code
- 81407
- ICD Code
- Q87.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A small blood sample will be drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the CHSY1 gene that are associated with Temtamy preaxial brachydactyly syndrome. It aids in confirming a clinical diagnosis, identifying carriers, and providing information for prenatal diagnosis and genetic counseling.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card
- Label the sample with patient's name and date of birth
- Maintain sample at room temperature if transported within 24 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for CHSY1 mutations is crucial for accurate diagnosis and family counseling. Early detection can guide management and reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
Understanding Your Results
Positive
Pathogenic variant detected; confirms diagnosis of Temtamy syndrome
Action: Genetic counseling and family screening recommended
Negative
No pathogenic variant found; may not rule out other genetic causes
Action: Consider broader genetic panel or clinical re-evaluation
Variant of uncertain significance
Variant found but clinical significance unknown
Action: Further family studies and functional analysis may be needed
Consult a geneticist or pediatrician if you or your child have symptoms like short or malformed fingers/toes, or if there is a family history of the condition. Early consultation can lead to timely diagnosis and management.
Limitations
- ⚠This test only analyzes the CHSY1 gene; other genes may be involved in similar phenotypes
- ⚠Mutations in non-coding regions may not be detected
- ⚠Results should be interpreted by a geneticist
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Rare variants of uncertain significance
Compare With Similar Tests
| Test | CHSY1 Gene Temtamy preaxial brachydactyly syndrome NGS Genetic Test | Whole Exome Sequencing | Targeted CHSY1 Sanger Sequencing |
|---|---|---|---|
| Comparison | CHSY1 Gene Temtamy preaxial brachydactyly syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the CHSY1 gene NGS test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done during pregnancy?
What is Temtamy syndrome?
Is home sample collection available?
What does the test detect?
Who should consider this test?
Are there any risks?
Will insurance cover the cost?
How accurate is the NGS 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.
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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