Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81304
Test Code 
1275
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females.  Rett syndrome is characterized by acquired microcephaly, loss of purposeful hand movements, and autistic behaviors, following a period of normal growth and development.  Rett syndrome is caused by mutations in the MeCP2 (methyl-CpG-binding protein) gene located at Xq28.  Sequence mutations are present in 80% of girls with classic Rett syndrome and 20% of girls with a variant diagnosis.  MeCP2 deletions are found in approximately 16% of girls with classic Rett syndrome and no previously identified sequence mutation.

Deletions and/or duplications in the MECP2 gene as causative of Rett syndrome have been reported.