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
Sequence Analysis - 81479; Known Point Mutation - 81479
Clinical features of rolandic seizures (RS) include focal seizures, oro-facial dyspraxia with impairment of oro-facial motility, speech delay and developmental delay. During the active phase of the seizures centro-temporal spikes typically tend to occur in clusters and are strongly activated during sleep. A patient with seizures in the rolandic area with bilateral perisylvian polymicrogyria, speech dyspraxia, and mental retardation has also been reported. Variability in phenotypes of carrier females has been reported including unaffected female relatives and female relatives with mild MR only.
The Srpx2 gene is located on chromosome Xq22.1. It encodes a secreted sushi repeat-containing protein expressed in neurons of the human adult brain, including the rolandic area. Missense mutations in Srpx2 have been identified in one family with X-linked RS and another family with RS, bilateral perisylvian polymicrogyria, speech dyspraxia, and mental retardation.
PCR amplification and sequence analysis is performed on the coding exon including splice junctions. The patient’s gene sequence is 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. Analytical sensitivity: This assay has greater than 99.7% sensitivity for detecting substitution variants and indels. Reference Range: Copy number variations and mutations within the promoter regions, deep intronic regions or regulatory elements would also not be detected by this assay.
Early Infantile Epileptic Encephalopathy Panel – ARX, CDKL5, MEF2c, STXBP1, SLC25A22, SRPX2 Early Infantile Epileptic Encephalopathy (Sequence) – SLC25A22 Early Infantile Epileptic Encephalopathy (Sequence) – STXBP1 Atypical Rett Syndrome (Sequence and MLPA) – CDKL5 Infantile Spasms (Sequence) – ARX MEF2C Related Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations (Sequence and MLPA) – MEF2C
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.
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