Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81406
Test Code 
1306
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Genes 
Notes 
If sending saliva, 2 kits are required.

Wiedemann-Steiner syndrome [OMIM#605130] is a rare disorder characterized by excessive growth of terminal hair around the elbows (hypertrichosis cubiti), short stature, intellectual disability and characteristic facial features. Facial features include long eyelashes, think or arched eyebrows, downslanting and vertically narrow palpebral fissures, broad nasal bridge and wide nasal tip.   

Jones et al. (2012) identified mutations in KMT2A (MLL) [OMIM#159555] in five out of six patients with clinical features consistent with Wiedemann-Steiner syndrome.  All mutations were predicted to result in protein truncation. KMT2A encodes for a histone methyltransferase that regulates chromatin-mediated transcription.