Designed to tackle various genetic conditions that can manifest in newborns or early childhood, often with similar symptoms and a need for prompt treatment. It offers clinicians the convenience of a single test to accurately diagnose newborn-related diseases using dried blood spots.

Covers the entire mitochondrial genome and can detect heteroplasmy down to 15.0%. It also tests for nuclear genes related to mitochondrial diseases, which primarily impact organs with high energy demands.

Includes mitochondrial genes. Nuclear mitochondrial genes are not included.

Designed to detect various neurological disorders, but it does not include repeat expansion analysis. For conditions involving repeat expansions or Duchenne muscular dystrophy suspicion, specific panels or tests are recommended.

Designed for detecting ALS, Alzheimer's, dementia, and frontotemporal dementia, along with differentiating diseases with similar symptoms. It includes carefully selected genes and covers actionable diseases but does not detect Huntington's disease.

Focused on specific seizure syndromes, including Dravet syndrome, early infantile epileptic encephalopathy, various types of epilepsy, and it also covers genes related to mitochondrial disorders like myoclonic epilepsy with ragged red fibers (MERRF).

For intellectual disabilities encompasses various inheritance mechanisms, including syndromic and non-syndromic autism, microcephaly, neuronal migration disorders, developmental regression, and Aicardi Goutieres. It also allows for the detection of Fragile X syndrome by including repeat expansion analysis of FMR1.

Suitable for patients with various conditions. It includes metabolic myopathies, muscular dystrophies, Charcot-Marie-Tooth disease, congenital myasthenic syndromes, congenital myopathies, myofibrillar myopathies, nemaline myopathies, and other disorders characterised by symptoms like hypotonia, myotonia, or weakness. It also addresses arthrogryposis for the differential diagnosis of early-onset neuromuscular disorders. For suspected Duchenne muscular dystrophy, additional deletion/duplication analysis of the DMD gene is recommended.

Designed to identify all relevant genetic variants related to the development and treatment of PD. PD is characterised by neuronal loss in specific areas of the substantia nigra and the accumulation of the intracellular protein α-synuclein. The core motor symptoms of PD include tremor, muscle rigidity, and bradykinesia.