Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81405
Test Code 
2120
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

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.