TUBB3 Gene Fibrosis of Extraocular Muscles, Congenital Type 3a NGS Genetic Test
Short Name: TUBB3 CFEOM3A NGS
Also known as: TUBB3-Related CFEOM3A, Congenital Fibrosis of Extraocular Muscles Type 3a, TUBB3 Gene Sequencing
TUBB3 Gene Fibrosis of Extraocular Muscles, Congenital Type 3a 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 issued within 3 to 4 weeks from the date of sample receipt at the laboratory. Delays may occur if additional confirmatory Sanger sequencing is required.. 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 this test is to detect pathogenic variants in the TUBB3 gene that are associated with congenital fibrosis of extraocular muscles type 3a. The test is intended for individuals with clinical features suggestive of CFEOM3A, for confirmation of diagnosis, and for reproductive risk assessment in affected families.
- Test Code
- 3822
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks from the date of sample receipt at the laboratory. Delays may occur if additional confirmatory Sanger sequencing is required.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. The patient may eat and drink normally. Please bring any previous ophthalmic reports, family history information, and prescription details to the genetic counseling session.
Method: Peripheral blood draw / FTA card spot / extracted DNA submission
Laboratory Analysis
Blood will be collected by a trained phlebotomist using a sterile needle. For FTA card collection, a single drop of blood from a finger prick is applied to the card. The procedure is quick and relatively painless.
Report Delivery
There are no specific post-collection precautions. The patient can resume normal activities immediately. If you experience persistent bleeding or discomfort at the venipuncture site, contact the laboratory.
Timeline: Reports are issued within 3 to 4 weeks from the date of sample receipt at the laboratory. Delays may occur if additional confirmatory Sanger sequencing is required.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the TUBB3 gene that are associated with congenital fibrosis of extraocular muscles type 3a. The test is intended for individuals with clinical features suggestive of CFEOM3A, for confirmation of diagnosis, and for reproductive risk assessment in affected families.
How to Prepare
- Use an EDTA vacutainer for blood sample collection.
- If using an FTA card, ensure the blood spot thoroughly saturates the marked circle.
- Label the sample with patient name, date of birth, and collection date.
- Transport the sample at ambient temperature within 24 hours, or frozen for long-distance shipment (except FTA cards which can be transported at room temperature).
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of TUBB3-related disorders can guide family planning and enable timely ophthalmologic intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Quantity of DNA below the required threshold
- FTA card not fully saturated or contaminated
- Sample without proper labeling or patient details
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Confirms the clinical diagnosis of CFEOM3A. Genetic counseling is strongly advised for the patient and family members.
Action: Ophthalmologic management, surgical planning, and assessment of extracular manifestations such as peripheral neuropathy or intellectual disability.
Variant of uncertain significance (VUS) detected
A rare variant was identified, but its clinical significance is unknown. Segregation analysis in family members and further functional studies may be required.
Action: Correlate with clinical findings; consider additional genetic testing (e.g., gene panel or exome sequencing) if phenotype is strongly suggestive.
No pathogenic variant detected
No clinically significant mutations in the TUBB3 gene were identified. This reduces the likelihood of CFEOM3A but does not exclude all genetic causes of the condition.
Action: Consider testing other CFEOM-related genes (e.g., KIF21A, PHOX2A, TUBG1) or a comprehensive eye movement disorder panel.
If you or your child experience symptoms such as restricted eye movement, crossed eyes, drooping eyelids, or involuntary eye movements, consult an ophthalmologist. If congenital fibrosis of extraocular muscles is suspected, a referral to a clinical geneticist for genetic testing and counseling is recommended.
Limitations
- ⚠This test detects variants in the TUBB3 gene only and does not rule out other genetic causes of congenital fibrosis of extraocular muscles (e.g., KIF21A, PHOX2A, TUBB2B, etc.)
- ⚠Large deletions or duplications in TUBB3 may not be reliably detected by standard NGS sequencing; supplementary deletion/duplication analysis is recommended if clinically suspected
- ⚠Variant interpretation may be limited by current scientific knowledge; VUS results may require further family segregation studies
- ⚠Somatic mosaicism may be missed if the variant is present at low allele frequency
- ⚠This test is not intended for prenatal diagnosis unless explicitly validated
Risks & Considerations
- ●Nil significant. Blood collection carries a minimal risk of bruising, bleeding, or infection at the puncture site.
- ●Possible psychological impact of receiving a genetic diagnosis; genetic counseling is available.
Interfering Factors
- ●Poor sample quality or insufficient DNA quantity
- ●DNA degradation due to improper storage or transport
- ●Contamination from foreign DNA during collection
- ●Rare neutral variants or novel variants of unknown significance
Compare With Similar Tests
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| Comparison | TUBB3 Gene Fibrosis of Extraocular Muscles, Congenital Type 3a NGS Genetic Test |
Frequently Asked Questions
What is congenital fibrosis of extraocular muscles type 3a?
What does the TUBB3 gene do?
How is CFEOM3A inherited?
What are the common symptoms of CFEOM3A?
Why is genetic testing recommended for CFEOM3A?
What is the cost of the TUBB3 gene NGS test at DNA Labs India?
What sample is required for the test?
How long does it take to get the test report?
Does DNA Labs India provide raw data files?
Can this test be done for a child?
What if the test does not find any mutation in TUBB3?
Why should I choose DNA Labs India for this genetic test?
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