Rare Disease Precision Panel
Diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype.
Panels
Bardet-Biedl Syndrome Precision Panel – 28 genes
Bardet-Biedl Syndrome (BBS) is an inherited disease belonging to the group of disorders called ciliopathies, where there is a defect in primary cilia which plays a key role in sensory perception and various signalling pathways.
Fibrosis Cystic Precision Panel – 10 genes
Cystic Fibrosis (CF) is the most common lethal inherited disease in white persons. It is a life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America and Australia.
Noonan Spectrum Disorders and RASopathies Precision Panel – 32 genes
Noonan Syndrome is a genetic disorder that impairs normal development of several parts of the body. The main features of Noonan Syndrome include unusual fascies (hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature and chest deformity.
Cornelia de Lange Syndrome Precision Panel – 7 genes
Cornelia de Lange Syndrome (CdLS) is archetypical genetic syndrome characterized by intellectual disability, distinct facial features, upper limb anomalies, pernatal and postnatal growth retardation among other signs and symptoms. It is caused by mutations in genes that have a structural or regulatory function in the cohesion complex.
DiGeorge Syndrome Precision Panel – 9 genes
DiGeorge Syndrome (DGS) is one of a group of phenotypically similar disorders including velocardiofacial syndrome (VCFS) and conotruncal anomaly face (CTAF). These disorders share a microdeletion of chromosome 22q11.2, a region known as the DiGeorge critical region.
Prader Willi/Angelman Syndrome Precision Panel – 16 genes
Prader Willi and Angelman Syndrome are neurodevelopmental disorders caused by a deletion of a region in chromosome 15 and are classically known as genomic imprinting disorders. These disorders are characterized by an imprinting center controlling the expression of selected genes in chromosome 15, therefore a deletion in these areas affect the expression of certain genes.
Stickler Syndrome Precision Panel – 63 genes
Stickler Syndrome (SS), also known as hereditary arthroophthalmopathy belongs to the group of connective tissue disorders together with Marshall syndrome, and so have overlapping characteristics. It is caused by mutations of genes in charge of the assembly of collagen
