Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81403
Test Code 
2133
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Disorders 
Genes 
Notes 
If sending saliva, 2 kits are required.

MEDS (Microcephaly, Epilepsy, and Diabetes Syndrome) [OMIM#614231] is a rare disorder characterized by primary microcephaly, simplified gyral pattern, severe infantile epileptic encephalopathy and early-onset permanent diabetes.

IER3IP1 [OMIM#609382] is highly expressed in the fetal brain cortex and fetal pancreas, and is thought to be involved in endoplasmic reticulum stress response. IER3IP1 has been implicated in the regulation of cell survival. Poulton et al (2011) identified homozygous missense mutations in IER3IP1 in affected children from two consanguineous families.