Congenital cardiopathies (CC) are congenital malformations that occur most often in humans. Approximately 1 in every 100 children are born with a CC. 6% are due to some sort of chromosomal anomaly, 5-10% due to alteration in a single gene, whether syndromic or non-syndromic, 15% are genetic syndromes caused by multiple genes, while 70% of cases are due to multifactorial or multi-gene heredity.
This wide diversity of genes involved hinders the diagnosis of congenital cardiopathy, making it essential for a more global diagnostic approach in most cases using sequencing panels.
ICM provides diagnostic solutions for the variety of different cases that clinicians may be presented with during consultations, helping specialists to choose which study to perform. ICM also offers clinicians a wide range of genetic studies that can be viewed in the available catalogue.
One of the many panels offered is a global NGS panel for CC covering all the genes known to be involved in this process to date.
The coverage is 100% and the average coverage depth greater than 300X, with a minimum of 50X, making this the panel with the highest diagnostic capacity.
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