TUBB3 Sequencing

Test Description:
Congenital fibrosis of extraocular muscles (CFEOM) is a strabismus syndrome characterized by congenital inability to move the eye muscles, with or without ptosis (droopy eyelids). CFEOM3, caused by variants in TUBB3, has a slightly variable phenotype from the class CFEOM1. It is inherited in an autosomal dominant manner.

This laboratory performs Sanger sequencing of TUBB3.

Forms & Docs

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Test Code
S0983

Turn Around Time
3-5 weeks

Billing

CPT Code
81479×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
TUBB3

Methods
Sanger