Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81403
Test Code 
2149
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

Mutations in NEUROG3 [OMIM#604882] are associated with congenital malabsorptive diarrhea, neonatal diabetes and impaired pancreatic exocrine function. All reported cases present with chronic unremitting malabsorptive diarrhea in the first weeks of life. NEUROG3 is a transcription factor involved in the determination of neural precursor cells in the neuroectoderm, it is expressed in endocrine progenitor cells and is required for endocrine cell development in the pancreas and intestine. 

NEUROG3 mutations follow an autosomal recessive inheritance pattern and are a rare cause of permanent neonatal diabetes mellitus. Parents of an affected child are most likely obligate carriers. Recurrence risk for carrier parents is 25%.