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Description
Duane syndrome (DS) is an eye movement disorder present at birth (congenital) characterized by horizontal eye movement limitation [a limited ability to move the eye inward toward the nose (adduction), outward toward the ear (abduction), or in both directions. Genetic studies of two large families with DS inherited autosomal dominantly (without associated abnormalities) established that mutations in the CHN1 gene were found to be the cause in these and several other families.
External Information
Click here for more information about the Duane Syndrome genetic test.Additional information
Samples | EDTA |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 1 |
Genes / Chromosomes / SNPs | CHN1 |
Related diseases | |Duane Retraction syndrome |
External Information | Click here for more information about the Duane Syndrome genetic test. |