EXT2 Gene Seizures, scoliosis, and macrocephaly syndrome NGS Genetic Test
Short Name: EXT2 NGS Genetic Test
Also known as: EXT2 Gene Mutation Test, Seizures-Scoliosis-Macrocephaly Syndrome Genetic Test
EXT2 Gene Seizures, scoliosis, and macrocephaly 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 available within 3 to 4 weeks after the sample reaches 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 test is to confirm or rule out a diagnosis of EXT2 gene seizures, scoliosis, and macrocephaly syndrome in individuals presenting with suggestive symptoms. It also helps in carrier testing, prenatal diagnosis, and genetic counseling for affected families.
- Test Code
- 5925
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended before the test to discuss implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare required. You can resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out a diagnosis of EXT2 gene seizures, scoliosis, and macrocephaly syndrome in individuals presenting with suggestive symptoms. It also helps in carrier testing, prenatal diagnosis, and genetic counseling for affected families.
How to Prepare
- For blood sample: Use EDTA vacutainer, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the designated circle, air dry for 30 minutes.
- Label the sample with patient name, date of birth, and collection date.
- Transport at ambient temperature; avoid extreme heat or cold.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for EXT2 gene mutations is crucial for early diagnosis and management of this rare syndrome. Our NGS-based test provides comprehensive coverage of the gene, enabling accurate detection of pathogenic variants."
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
- Sample exposed to extreme temperatures
Understanding Your Results
Positive
Pathogenic variant detected; confirms diagnosis. Genetic counseling recommended for family planning and management.
Negative
No pathogenic variant found; consider other genetic tests or clinical evaluation.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unclear. Further testing or family studies may be needed.
If you or your child experience seizures, scoliosis, macrocephaly, or developmental delays, consult a pediatrician or geneticist for evaluation and possible genetic testing.
Limitations
- ⚠This test does not detect all possible genetic causes of the symptoms; other genes may be involved.
- ⚠Variants of uncertain significance may be reported; additional testing may be required.
- ⚠Not intended for prenatal diagnosis without prior genetic counseling.
- ⚠Regulatory restrictions may apply in some regions.
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
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaic variants may be missed
Compare With Similar Tests
| Test | EXT2 Gene Seizures, scoliosis, and macrocephaly syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | EXT2 Gene Seizures, scoliosis, and macrocephaly syndrome NGS Genetic Test | WES analyzes all coding regions of the genome, while this test focuses only on the EXT2 gene. WES is more comprehensive but costlier and may have longer turnaround time. | CMA detects copy number variations (deletions/duplications) but does not detect single nucleotide variants. This NGS test is better for point mutations. | Sanger sequencing is targeted and accurate for known mutations but less efficient for large genes. NGS provides higher throughput and can detect novel variants. |
Frequently Asked Questions
What is the cost of the EXT2 gene NGS genetic test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
What does the test detect?
Who should consider this test?
Is genetic counseling included?
Can this test be done for children?
Is home sample collection available?
What is the accuracy of this test?
What if the result is negative?
Are there any risks?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.