Institutional Price 
$1,000.00
TAT 
4 weeks
CPT Code 
81405
81406
Test Code 
2119
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA

Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [OMIM#240900] is characterized by recurrent severe fasting hypoglycemia and asymmetrical growth.

AKT2 [OMIM#164731] encodes for a serine/threonine kinase. Hussain et al. (2011) identified the same de novo missense mutation in three patients with the HIHGHH phenotype. In one patient the mutation was identified in the mosaic state. The mutation identified was an activating mutation, and functional studies showed it lead to insulin-independent activation of downstream signaling.