Cost 
$540.00
TAT 
4 weeks
CPT Code 
81404
Test Code 
1264
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Genes 

Oculodentodigital dysplasia [ODDD, MIM# 164200] is characterized by a typical facial appearance and variable involvement of the eyes, fingers and dentition. Ocular features include bilateral microphthalmia, microcornea and ocular hypotelorism. Digital malformations typically include fifth finger camptodactyly, syndactyly of the fourth and fifth fingers and missing phalanges of the toes. Teeth are typically small and carious. Neurologic features can include spastic quadriparesis, progressive spastic paraparesis, and abnormal white matter changes in brain MRI. Intrafamilial variability of the major phenotypic characteristics is not uncommon.