Angelman syndrome is characterized by a general severe intellectual disability, severe speech impairment, gait ataxia and/or tremors of the extremities, and seemingly happy behavior. It is caused by an abnormal methylation pattern at the 15q11.2-q13 region or by mutations in the maternal allele of UBE3A.
Angelman syndrome: 1/10,000-20,000 newborns.
10% of all patients will present an alteration in UBE3A, though, 80% of all patients suffer from an alteration detectable by MS-MLPA. Therefore, the recommended initial test when clinical suspicion is high is MS-MLPA. However, when suspicion remains high and a non-informative initial result has been obtained using this technology, it is advisable to extend the study to the UBE3A gene and other genes of entities to be considered in the differential diagnosis.
The benefits derived from a genetic diagnosis in this context are especially aimed at establishing the diagnosis and family genetic counseling.
Service indicated when the suspicion of Angelman syndrome is very high and a non-informative result has been obtained using the MS-MLPA.
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2) Sample collection
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5) Result: the report
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Turnaround time (TAT): 25 days
Ref. S-202211688
Virtual panel based on whole exome sequencing, aimed at the analysis of UBE3A, as well as genes associated with differential diagnosis entities. If a non-informative result is obtained, it is recommended to consider other entities that cause intellectual disability and request a broader study, either the intellectual disability panel, a complete exome directed by phenotype, or a trio exome. All this based on the available clinical information and the complete assessment carried out by the responsible geneticist.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
