Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81406
Test Code 
1200
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Genes 

Donnai-Barrow syndrome [DBS, OMIM#222448] is characterized by agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphism, ocular anomalies, sensorineural hearing loss and developmental delay. DBS has clinical overlap with facio-oculo-acoustico-renal syndrome [FOAR, OMIM#227920], however FOAR syndrome is typically reported as having proteinuria but lacking agenesis of the corpus callosum and congenital diaphragmatic hernia. No one clinical feature is pathognomic for DBS. The diagnosis should be considered when several of the clinical features are present in combination.