The service sensorineural hearing loss (syndromic and non-syndromic) includes all the genes related to sensorineural hearing loss, both those of syndromic and non-syndromic forms and of any type of inheritance.
Congenital hearing loss (all causes): 0.2-3.6/1,000 newborns in the US.
Recommended service when there is a high level of uncertainty to be able to categorize the patient’s clinical condition into syndromic or non-syndromic hearing loss.
The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities in syndromic patients.
Service is indicated when 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 the presence of additional phenotypic signs.
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
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Turnaround time (TAT): 25 days
Ref. S-202313841
Virtual panel based on whole exome sequencing, aimed at the analysis of all genes with high, moderate and low evidence related to 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.
