Autosomal recessive (AR) inheritance is the most common in the context of sensorineural hearing loss of genetic origin. AR forms account for approximately 80% of genetic causes, accounting for both syndromic and non-syndromic entities.
Congenital hearing loss (all causes): 0.2-3.6/1,000 newborns in the US.
Because genetic causes represent a high percentage of the total, it is advisable to request a genetic study for sensorineural deafness, as long as there are no clinical data suggestive of a non-genetic cause. If familial deafness with a clear pattern of autosomal recessive inheritance 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, due to the presence of family history or due to the existence of consanguinity.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
3) Pack the sample
Please pack the sample in a way to prevent leakage
4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202313843
Virtual panel based on whole exome sequencing, aimed at the analysis of all genes with high, moderate, and low evidence related to autosomal recessive non-syndromic sensorineural hearing loss. The genes for certain syndromic diseases in which deafness may be the only and earliest clinical sign have also been included in the list.
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 recessive non-syndromic sensorineural hearing loss
