Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81402
Test Code 
1279
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

Patients with the congenital variant of Rett syndrome have features similar to classic Rett syndrome, but hypotonia and severe developmental delay starts in the first months of life.  Abnormalities of the FOXG1 [OMIM #164874] gene, or forkhead box G1, have been identified in patients with the congenital variant of Rett syndrome.  Ariani F, et al [2008] studied 53 patients with classic Rett syndrome and the variant forms of Rett syndrome.  In their study, 2/2 patients with the congenital variant of Rett syndrome had truncating mutations in FOXG1.  None of the other patients were found to have mutations or deletions in FOXG1.

Deletions and/or duplications of the FOXG1 gene as causative of Rett syndrome have been reported.