Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81404
Test Code 
2145
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

Neonatal Diabetes Mellitus with Congenital Hypothyroidism [OMIM#610199] is characterized by neonatal diabetes mellitus, severe congenital hypothyroidism, hepatic fibrosis, polycystic kidneys and congenital glaucoma. Facial dysmorphism, intrauterine growth restriction and mild intellectual disability have also been reported. 

Mutations in the GLIS3 [OMIM#610192] gene cause Neonatal Diabetes Mellitus with Congenital Hypothyroidism. To date frameshift mutations and gross deletions have been described. GLIS3 belongs to the GLIS subfamily of Kruppel-like zinc finger proteins and functions as an activator and repressor of transcription.