CASK-related Intellectual Disability
|Disorders||CASK-related Intellectual Disability|
There is a phenotypic spectrum associated with mutations in the CASK gene. This includes affected males and females with mild to severe intellectual disability, with or without dysmorphic features, and unaffected carrier females.
Ocular abnormalities, specifically nystagmus and strabismus, appear to be common findings, including in some carrier females with normal intelligence. Other neurological findings such as gait abnormalities, seizures, and a resting tremor have also been described in individuals with CASK mutations.
An FG-like phenotype in one family has also been associated with mutations in this gene.
|Indications||Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.|
X-inactivation analysis is available in the Molecular Diagnostic Lab for females who are suspected to have an X-linked condition or who have been found to carry an x-linked mutation.CASK sequencing is also included as a part of the X-Linked Intellectual Disability gene sequencing panel.
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.|
|Turnaround time||6 weeks|
|Prenatal testing||Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.|
|CPT Codes||Unknown mutation
|Cost||$2200 for sequencing
$350 for known mutation
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.