Sensorineural hearing loss can be genetically origined in up to 50% of cases. These genetic entities can exclusively cause deafness or be part of syndromes with other non-auditory alterations. Dominant forms of inheritance account for 10% of all causes of sensorineural deafness.
Congenital hearing loss (all causes): 0.2-3.6/1,000 newborns in the US.
Genetic causes represent a high percentage of the total and therefore, it is advisable to request a genetic study for sensorineural deafness, as long as there are no clinical data compatible with a different causal agent. If familial deafness with a clear dominant inheritance pattern is evident, this service would be indicated with the aim of increasing the specificity of the analysis. The benefits derived from a genetic study in this context are especially aimed at completing the diagnosis and family genetic counseling.
Service is indicated when isolated sensorineural deafness is diagnosed and a genetic origin is suspected in the absence of other causal agents or due to the presence of family history.
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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-202313842
Updated (dd/mm/yy): 08/10/2025
Virtual panel based on whole exome sequencing, aimed at the analysis of all genes with high, moderate and low evidence related to autosomal dominant non-syndromic sensorineural hearing loss.
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.
Autosomal dominant non-syndromic sensorineural hearing loss
