Specimen

Whole Blood

Collection Medium:

Alternate
Collection Media:

Lavender top tube (EDTA)

Minimum:

Adult Minimum: Collect TWO 6 mL pink top (EDTA sprayed) tubes
Child Minimum: Collect one 6 mL pink top (EDTA sprayed) tube
Infant Minimum:  2-6 mL whole blood from pink top (EDTA sprayed) tube

Please contact the laboratory for specific requirements for prenatal 
testing.

Analytic Time:

6-8 weeks

Comments:

Please print, complete, and submit the following forms with the 
appropriate signatures, the correct sample type and the A-1a 
Miscellaneous Request:

DNA Test Requisition, Billing Information Form and the Informed 
Consent for DNA Testing from Bayler College of Medicine (BCM) Medical 
Genetics Laboratories.

Test
Limitations:

Rett syndrome is an X-linked neurodevelopmental disorder caused by 
mutations in the MECP2 gene which encodes the Methyl CpG Binding 
Protein 2 transcriptional repressor. Rett syndrome affects ~1 in 10,000 
females with symptoms including loss of speech and purposeful hand use, 
microcephaly, seizures, ataxia, and stereotypic hand movements. MECP2 
mutations manifest a broader spectrum of clinical phenotypes in female 
and rare male patients, with features overlapping with other mental 
retardation disorders. Mutations in the MECP2 coding region can be 
detected by sequence analysis in up to ~85% of Rett cases (see MECP2 
Sequencing Analysis). In addition, large MECP2 gene deletions have been 
identified in approximately 10% of Rett patients.

Sequencing has an analytical sensitivity of ~99% for point mutations. 
Up to ~95% of classic Rett patients have small or large mutations in 
the MECP2 gene.

Methodology:

Southern and densitometry analysis for gene rearrangements involving 
MECP2 exons 1-4.

CPT Code:

83891, 83892(x2), 83894(x4), 83896(x2), 83897(x2), 83912