CHARGE syndrome refers to the classic association of coloboma, heart defect, choanal atresia, growth and developmental delay, genital hypoplasia, and ear abnormalities (including deafness). However, other alterations typically identified in CHD7 mutation carriers are cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, and cerebral and renal anomalies.
CHARGE: 1 / 12,000-15,000 recién nacidos (ORPHA: 138).
Recommended service because the targeted exome is the most cost-efficient alternative to assess both the CHD7 gene and the genes typically involved in the differential diagnosis of the entity.
The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the early detection of associated comorbidities, thus allowing better symptomatic management.
Service indicated when the disease is suspected based on clinical and imaging findings.
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-202314156
Virtual panel based on whole exome sequencing, aimed at the analysis of the CHD7 gene and those associated with differential diagnosis entities. If the molecular cause is not found, it is recommended to consider other possible diagnoses and expand the request to a complete exome directed by phenotype.
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.
CHARGE syndrome
