MECP2 Sequencing, Family-targeted (Single Exon Sequencing−Known Mutation)
Also known as: Rett Syndrome
Use
Detects mutations in the gene for methyl-CpG-binding protein 2 (MECP2), which causes Rett syndrome, a severe neurological disorder leading to regression of developmental behaviors and expressive language skills.
Special Instructions
Not provided.
Limitations
This test does not detect variants in any other gene, nor does it detect genomic deletions or promoter or deep-intron variants. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur.
Methodology
DNA sequencing
Biomarkers
LOINC Codes
- 35137-9
- 35137-9
Result Turnaround Time
14-24 days
Related Documents
For more information, please review the documents below
Specimen
Unknown
Volume
Not provided
Minimum Volume
Not provided
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; wet buccal swab; one buccal swab
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