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
X-linked Angelman-like syndrome is a mental retardation syndrome associated with microcephaly, seizures, ataxia, and absent speech. Many identified patients also display a happy demeanor with frequent smiling and spontaneous laughter reminiscent of Angelman syndrome. Affected individuals appear normal at birth, then display deceleration of head growth in the first year of life and a thin body habitus. The clinical spectrum of features seems to resemble Angelman syndrome in younger patients and Christianson syndrome in older patients. There appears to be range of phenotypes in carrier females, from mental retardation to absence of symptoms.
Mutations in the gene SLC9A6 (Xq26.3) lead to X-linked Angelman-like syndrome. Truncating, splice site and nonsense mutations in the SLC9A6 gene have been identified in 6% of patients with an Angelman-like phenotype that were negative for mutations in the MECP2 gene and the 15q region.
We offer DNA sequence analysis of the entire coding region of the SLC9A6 gene. PCR amplification and sequence analysis 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. Mutations in promoters, deep intronic regions and other regulatory regions will not be identified with this assay.
Mutations in the SLC9A6 gene are identified in ~6% of patients with an Angelman-like phenotype that were negative for mutations in the MECP2 gene and the 15q region.
Known mutation analysis of the SLC9A6 gene is available to family members for mutations previously identified by sequence analysis.
Prenatal Testing is available to individuals who are confirmed carriers of mutations in the SLC9A6 gene. Please contact the laboratory director to discuss appropriate testing prior to collecting a prenatal specimen.
Angelman Studies by Methylation Specific PCR
Rett Syndrome: MECP2 Sequence and Deletion/Duplication Analysis
Test results with interpretation will be mailed and/or faxed to the referring physician 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, 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.