Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81403
Test Code 
2157
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

Pancreatic and Cerebellar Agenesis [OMIM#609069] is characterized by neonatal diabetes mellitus and cerebellar hypoplasia/agenesis. Characteristic dysmorphism can include triangular facies, small chin, beaked nose and low set, dysplastic ears. Generalized joint stiffness and bilateral talipes equinovarus have also been noted.

Mutations in the PTF1A [OMIM#607194] gene have been reported in patients with Pancreatic and Cerebellar Agenesis. PTF1A encodes a basic helix-loop-helix protein that is a sequence-specific DNA binding subunit of the trimeric pancreas transcription factor.

Please use our endocrinology requisition form to order this testing.