It is estimated that between 25% and 35% of all cases of intellectual disability (ID) are genetic. Establishing the cause of the ID is essential for prognosis, patient management and the process of genetic counselling. Even today, the cause of intellectual disability remains unknown in more than 50% of cases. Of these, approximately 30% are genetic in origin and 15% are environmental.
The causes of ID are extremely varied: The genetic causes can be classified as chromosomal abnormalities or monogenic or multifactorial disorders.
In line with the associated clinical manifestations, it is subdivided into syndromic ID (when associated with specific dysmorphic, neurological, biochemical or behavioural traits) or non-syndromic or unspecified (when ID is the only apparent trait of the disease).
There are cases of X-linked ID, de novo cases, cases due to deletions, duplications or rearrangements, those of dominant and recessive inheritance...Given the great diversity of cases and studies, ICM offers clinicians a wide range of diagnostic approaches. One of the many panels offered is a global NGS panel for developmental delays 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.
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. Contact the advisory team by email at firstname.lastname@example.org. ICM offers clinicians a wide range of genetic studies that can be viewed in the available catalogue.