Collect whole blood in a purple top (EDTA) tube.
Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.
Whole blood can be refrigerated until shipment.
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Mon - Fri 9:00am to 4:00pm
Seq & Del/dup- 81479 x 2; Sequence Only- 81479; Del/dup Only- 81479; Known Point Mutation- 81479
Mutations in the MEF2C gene result in an a distinct phenotype that is characterized by severe intellectual disability, hypotonia, epilepsy, stereotypic movements, lack of speech development and cerebral malformations. Patients can also present with mild dysmorphic features. There is phenotypic overlap between patients with MEF2C mutations and atypical Rett syndrome patients.
MEF2C is located on chromosome 5q14 and it encodes a transcription factor called myocyte enhancer factor 2C, which plays an important role in multiple embryological processes including cardiogenesis and neurogenesis.
Missense, splice site, nonsense, and large deletions have been identified in this gene. Mutations are inherited in an autosomal dominant pattern and are typically de novo. Germline mosaicism has not been reported previously.
We offer DNA sequence analysis of the entire coding region. PCR amplification and sequencing is performed on all coding exons including splice junctions. The patient’s gene sequence is then compared to a reference sequence. Sequence variants are classified as mutations, variants of unknown significance or benign variants unrelated to disease. Variants of unknown significance may warrant further studies in the patient and other family members.
In a large study of 362 patients with mental retardation, mutations in the MEF2C gene were identified in 1.1% of patients (Zweier et al. 2010., Human Mutation; 31: 722-723).
Atypical Rett syndrome (CDKL5 and FOXG1 analysis).
Test results with interpretation will be mailed and/or faxed to the referring physician or send out lab following completion of the test. Additional reports will be provided as requested.
The clinical utility of the assay is to support a clinical diagnosis of the disease, facilitate genetic counseling, and assess the risk to other first degree relatives and to facilitate testing of at - risk family members.
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.