ESCO2 Gene SC Phocomelia syndrome NGS Genetic Test
Short Name: ESCO2 Gene Test
Also known as: ESCO2 Mutation Test, Phocomelia Genetic Test, Roberts Syndrome Genetic Test
ESCO2 Gene SC Phocomelia 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. 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 the ESCO2 Gene SC Phocomelia Syndrome NGS Genetic Test is to identify mutations in the ESCO2 gene that cause SC Phocomelia Syndrome. This aids in confirming diagnosis, guiding treatment decisions, facilitating genetic counseling for families, and enabling prenatal or preconception planning.
- Test Code
- 2799
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with SC Phocomelia Syndrome are required before sample collection.
Method: Venipuncture for blood samples
Laboratory Analysis
Sample collection involves a standard blood draw or use of an FTA card for one drop of blood, performed by a trained phlebotomist.
Report Delivery
Samples are processed in the laboratory for DNA extraction and NGS analysis. Results are reviewed by geneticists.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ESCO2 Gene SC Phocomelia Syndrome NGS Genetic Test is to identify mutations in the ESCO2 gene that cause SC Phocomelia Syndrome. This aids in confirming diagnosis, guiding treatment decisions, facilitating genetic counseling for families, and enabling prenatal or preconception planning.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection tubes or FTA cards as specified
- Label samples correctly with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ESCO2 mutations is crucial for accurate diagnosis and management of SC Phocomelia Syndrome, especially in families with a history of congenital limb disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or contaminated samples
- Incorrect labeling or missing patient information
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of SC Phocomelia Syndrome due to ESCO2 gene mutation. Genetic counseling and management planning recommended.
Negative for pathogenic mutation
No ESCO2 gene mutations detected. Clinical correlation and consideration of other genetic tests may be needed.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further family studies and clinical follow-up advised.
Consult a doctor if symptoms of SC Phocomelia Syndrome are present, such as limb abnormalities, developmental delays, or heart defects, or if there is a family history of the condition.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Results should be interpreted in conjunction with clinical findings and genetic counseling
- ⚠Does not rule out other genetic causes of phocomelia
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising or infection
- ●Psychological impact of genetic results may require counseling support
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Technical errors in sequencing
Frequently Asked Questions
What is SC Phocomelia Syndrome?
How is the ESCO2 Gene Test performed?
What is the cost of the ESCO2 Gene SC Phocomelia Syndrome NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to get the test results?
What are the symptoms of SC Phocomelia Syndrome?
Who should consider this genetic test?
What does a positive test result mean?
Are there any risks associated with the test?
Can this test be used for prenatal diagnosis?
What if the test result is negative?
How accurate is the NGS Genetic Test?
Related Tests
Amino Acids Qualitative Two Dimensional Urine Test
₹1,439Succinylacetone Urine Test
₹5,000RXFP2 Gene Cryptorchidism NGS Genetic Test
₹20,000EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test
₹20,000MNX1 Gene Currarino syndrome NGS Genetic Test
₹20,000FGFR1 Gene Craniosynostosis, FGFR1 related 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.