Rett Syndrome Sequence Analysis
Also known as: methyl-CpG-binding protein 2 (MeCP2)
Use
Sequence analysis of the entire amino acid coding region (exons 1‑4) and splice junction sites of the MECP2 gene will detect disease‑causing variants in approximately 80% of individuals with classic Rett Syndrome. This test will establish a clinical diagnosis of Rett Syndrome in females. This test will also establish the etiology of severe neonatal encephalopathy in males.
Special Instructions
Includes physician attestation of informed consent if ordering facility is located in specified states (AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD, VT) or test performed in MA. Reflex dosage testing (CPT 88235) added for amniotic fluid or CVS if not already ordered.
Limitations
The sequencing test can only detect mutations in about 80% of patients with classic Rett syndrome. Therefore, a negative test result does not rule out the clinical diagnosis of Rett syndrome.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 35137-9
Result Turnaround Time
11-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL whole blood
Minimum Volume
3 mL whole blood
Container
EDTA (lavender‑top), EDTA (royal blue‑top), ACD (yellow‑top), sodium heparin (green‑top) or sodium heparin (royal blue‑top) tube