21 - 28 days
Test Updated:
Christianson Syndrome
Sodium/Hydrogen Exchanger 6 (NHE6)
SLC9A6S
SLC9A6 Gene Sequencing
SLC9A6SS
SLC9A6 Gene Seq Shadow
X-Linked Mental Retardation, Christianson Type (MRXSCH)
Autism / Intellectual Disability
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Test Overview
The coding exons and associated, adjacent consensus splice sites of the SHANK3 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of SLC9A6 (OMIM:300231) mutations in patients with a phenotype consistent with X-Linked Mental Retardation, Christianson Type (OMIM:300243), which may have phenotypic similarities to Angelman Syndrome.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimen Requirements
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
