Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81403
Test Code 
2153
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Disorders 
Genes 
Notes 
If sending saliva, 2 kits are required.

Pancreatic Agenesis [OMIM#260370] is characterized by early onset insulin-dependent diabetes and pancreatic exocrine insufficiency. Homozygous mutations in the PDX1[OMIM#600733] gene leads to neonatal diabetes, which has been attributed to pancreatic agenesis, while heterozygous mutations in PDX1 result in a MODY4 [OMIM#606392] phenotype. As MODY may be largely asymptomatic disease in younger years, hyperglycemia in obligate carriers may exist for years to decades before a diagnosis is made.

Please use our endocrinology requisition form to order this testing.