TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic Test
TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose Saethre-Chotzen Syndrome by identifying mutations in the TWIST1 gene using Next-Generation Sequencing (NGS) technology, enabling accurate clinical management and genetic counselling.
- Test Code
- 2798
- 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
- NGS
Sample Collection
Provide detailed clinical history of the patient and undergo a genetic counselling session to draw a pedigree chart of family members affected with Saethre-Chotzen Syndrome.
Laboratory Analysis
Your sample is analyzed using NGS in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Saethre-Chotzen Syndrome by identifying mutations in the TWIST1 gene using Next-Generation Sequencing (NGS) technology, enabling accurate clinical management and genetic counselling.
How to Prepare
- Collect blood sample or extracted DNA as per standard protocols
- For FTA card, use one drop of blood and allow to dry
- Ensure proper labeling and transport at ambient room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Pathogenic variant detected in TWIST1 gene, confirming diagnosis of Saethre-Chotzen Syndrome.
Result type: Positive
No pathogenic variants detected; clinical correlation recommended if symptoms persist.
Result type: Negative
Genetic variant identified but not conclusively linked to SCS; further testing or family studies may be needed.
Result type: Variant of Uncertain Significance (VUS)
Consult a geneticist or specialist if symptoms such as abnormal head shape, facial features, or developmental delays are present, or if there is a family history of Saethre-Chotzen Syndrome.
Frequently Asked Questions
What is Saethre-Chotzen Syndrome?
What causes Saethre-Chotzen Syndrome?
What is the TWIST1 gene?
How is NGS testing performed for this condition?
What is the cost of the TWIST1 Gene NGS Genetic Test?
Is home sample collection available?
How long does it take to get results?
What are the symptoms of Saethre-Chotzen Syndrome?
Is there a cure for Saethre-Chotzen Syndrome?
How accurate is the NGS genetic test?
Can this test be used for prenatal diagnosis?
What should I do before getting tested?
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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.
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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