KIF21A Gene Fibrosis of Extraocular Muscles, Congenital Type 1 NGS Genetic Test
Short Name: CFEOM1 NGS Genetic Test
Also known as: Congenital Fibrosis of Extraocular Muscles Type 1, CFEOM1
KIF21A Gene Fibrosis of Extraocular Muscles, Congenital Type 1 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
To detect pathogenic mutations in the KIF21A gene associated with Congenital Fibrosis of Extraocular Muscles Type 1 (CFEOM1), aiding in diagnosis, genetic counseling, and informed decision-making for patients and families.
- Test Code
- 1493
- 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
Patient should provide clinical history and undergo genetic counseling. No specific preparation or fasting is required.
Method: Venipuncture for blood samples
Laboratory Analysis
Blood sample collected via venipuncture; alternative samples like extracted DNA or blood on FTA card may be used as specified.
Report Delivery
Sample is sent to the laboratory for NGS analysis. Results are typically available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the KIF21A gene associated with Congenital Fibrosis of Extraocular Muscles Type 1 (CFEOM1), aiding in diagnosis, genetic counseling, and informed decision-making for patients and families.
How to Prepare
- Use sterile techniques for sample collection
- Label samples accurately with patient details
- Avoid hemolyzed or lipemic samples for optimal analysis
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS genetic test is essential for accurate diagnosis of CFEOM1, aiding in management and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic samples
- Insufficient sample volume
- Incorrect labeling or documentation
Understanding Your Results
Positive
Pathogenic variant detected in KIF21A gene, consistent with CFEOM1. Genetic counseling recommended for management and family planning.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; further clinical evaluation and genetic counseling advised.
Consult an ophthalmologist or genetic specialist if you experience symptoms such as restricted eye movement, strabismus, ptosis, or have a family history of CFEOM1.
Limitations
- ⚠May not detect all genetic variants or non-coding region mutations
- ⚠Requires interpretation by a qualified genetic counselor or clinician
- ⚠Does not rule out other causes of eye movement disorders; clinical correlation is necessary
Risks & Considerations
- ●Minimal risk from blood draw, such as slight bruising, pain, or rare infection at the puncture site.
Interfering Factors
- ●Poor sample quality or DNA degradation
- ●Contamination during sample collection or processing
- ●Technical errors in sequencing or analysis
Compare With Similar Tests
| Test | KIF21A Gene Fibrosis of Extraocular Muscles, Congenital Type 1 NGS Genetic Test | PAX6 Gene Aniridia NGS Test | FOXC1 Gene Anterior Segment Dysgenesis Test | General Ophthalmology Genetic Panel | Eye Movement Disorder Comprehensive Panel |
|---|---|---|---|---|---|
| Comparison | KIF21A Gene Fibrosis of Extraocular Muscles, Congenital Type 1 NGS Genetic Test | Focuses on mutations in the PAX6 gene for aniridia and other eye defects. | Targets FOXC1 gene mutations related to anterior segment eye disorders. | Covers multiple genes associated with various eye diseases for broader screening. | Includes genes like KIF21A and others for conditions affecting eye motility. |
Frequently Asked Questions
What is Congenital Fibrosis of Extraocular Muscles Type 1 (CFEOM1)?
What causes CFEOM1?
What are the symptoms of CFEOM1?
How is CFEOM1 diagnosed?
What is the KIF21A Gene NGS Genetic Test?
How much does the KIF21A Gene Test cost in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What do the test results indicate?
Can CFEOM1 be treated or cured?
Why should I choose DNA Labs India for this genetic test?
Is genetic counseling required before taking the test?
Related Tests
Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test
₹25,000Nx Gen Sequencing: Glaucoma Test
₹28,665Nx Gen Sequencing: Corneal Dystrophy Test
₹28,665Nx Gen Sequencing: Leber Congenital Amaurosis Test
₹28,665Nx Gen Sequencing: Optic Atrophy Test
₹28,665GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls 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.