21 - 28 days
Test Updated:
SHANK2 Gene Seq Shadow
SHANK2SS
SHANK2S
SHANK2 Gene Sequencing
Autism Spectrum Disorder (ASD)
Intellectual Disability (ID)
Autism Susceptibility 17 (AUTS17)
SH3
Autism / Intellectual Disability
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Test Overview
The coding exons and associated, adjacent consensus splice sites of the SHANK2 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of SHANK2 (OMIM:603290) mutations in patients with a phenotype consistent with Autism Susceptibility 17 (OMIM:613436).
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….
