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Access our Customer Area to request your genetic studies, customize your own panels and download your results reports
Access our Customer Area to request your genetic studies, customize your own panels and download your results reports
The extended panel of congenital ear malformations adds to the basic panel, the genes proposed exclusively by the HPO database and therefore genes with low evidence or, in an exceptional way, that are related to congenital malformations of the ear, both external, medium, and internal.
A genetic study carried out early in the first weeks of life, starting from the most obvious clinical signs in the newborn (such as an ear malformation evident by imaging tests or physical examination), may be the ideal way to reach a definitive diagnosis early.
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 comorbidities associated with the diagnosed entity.
Service is indicated when, after detecting reduced hearing in the infant, an ear malformation of possible genetic cause is demonstrated in an imaging test. Likewise, it is indicated when, after evaluating the patient at birth, a malformation of the external ear is evident and a genetic origin is suspected due to the presence of other associated signs, but it is not possible to guide the diagnosis towards a specific entity due to the other clinical signs. nonspecific.
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3) Pack the sample
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5) Result: the report
Via: e-mail and/or through the customer portal
2) Sample collection
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4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
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Turnaround time (TAT): 25 days
Ref. S-202313840
Updated (dd/mm/yy): 06/06/2023
Virtual panel based on whole exome sequencing, aimed at the analysis of all the genes that with high or moderate evidence are related to the different ear malformations.
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.
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