The congenital ear malformations service (basic panel) includes the genes involved in the following clinical signs:
These malformations may appear sporadically or as a result of an identifiable genetic alteration, either in isolation or as part of a syndrome with alterations at other levels.
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.
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
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-202313839
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.
