Congenital diaphragmatic hernia comprises a group of congenital defects of the structural integrity of the diaphragm that are usually associated with pulmonary hypoplasia and pulmonary hypertension.
Congenital diaphragmatic hernia: unknown (ORPHA:2140).
Recommended service when the presence of a diaphragmatic hernia has been revealed, but it has not been possible to suspect a specific genetic disease.
The genes analysis related to this clinical sign can be an optimal way to begin genetic analysis in the patient when there is no specific suspicion of a disorder, but there is evidence of diaphragmatic hernia.
Service is especially indicated when a congenital diaphragmatic hernia accompanied by other congenital malformations and/or dysmorphic features is evident.
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2) Sample collection
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5) Result: the report
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Turnaround time (TAT): 25 days
Ref. S-202314162
Virtual panel based on whole exome sequencing, aimed at the analysis of all genes of moderate, high, and low evidence related to the presence of a congenital diaphragmatic hernia.
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.
Congenital diaphragmatic hernia
