Choanal atresia is the most common congenital anomaly of the nose. It consists of the presence of a unilateral or bilateral bony (90%) or membranous (10%) septum between the nose and the pharynx.
Approximately 50-70% of patients present other congenital anomalies, especially bilateral forms. The syndromes most frequently associated with these clinical signs are:
1/7,000 newborns.
This service is used to diagnose those syndromic entities associated with choanal atresia, whose diagnosis could not be made clinically based on other phenotypic data.
As it is an objective clinical sign associated with a relatively small number of molecularly well-characterized diseases, it is appropriate as a guiding clinical sign.
Entities that associate choanal atresia within their classic phenotype or in an exceptional manner have been included in this panel.
The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies, to the prevention of associated comorbidities in syndromic patients.
Service is indicated when choanal atresia is confirmed in a newborn and it is not possible to guide the diagnosis to a specific entity despite suspecting a syndromic disease based on other phenotypic data.
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
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Turnaround time (TAT): 25 days
Ref. S-202313845
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes related to syndromic diseases that may cause choanal atresia.
If a diagnosis is not reached using this panel, it is recommended to extend the study to a whole exome directed by phenotype (based on codes from the HPO database) when the global evaluation of the patient has been completed, thus, after multidisciplinary assessment of the patient.
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.
