Cost 
$2,500.00
TAT 
8 weeks
CPT Code 
81406
81407
Test Code 
1316
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA

Warburg Micro syndrome [OMIM #600118] is a rare autosomal recessive condition characterized by ocular and neurodevelopmental abnormalities and hypothalamic hypogonadism. Key clinical features include microphthalmia, microcornia, congenital cataracts, optic atrophy, microcephaly, cortical dysplasia and atrophy, congenital hypotonia, severe intellectual disability, and spastic diplegia. Progressive joint contractures, growth failure, kyphoscoliosis and hypertrichosis have also been described in a proportion of affected individuals.