Rett syndrome Sequencing

Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. Loss of muscle tone is usually the first symptom. Other early symptoms may include problems crawling or walking and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.

Genetically Rett syndrome (symbolized RTT) is caused by mutations in the gene MECP2 located on the X chromosome. DNA sequencing of the entire MECP2 coding region detects disease-causing mutations in approximately 80% of individuals with classic Rett syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rett).

Methodology: Sequencing analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 330.8

Test Requisition: Sequencing Requisition

CPT Codes: 81302 Cost: $763.00

Turn-around-time: 21 days