Neurological Disorders
Hereditary neuropathies are genetically determined disorders of the peripheral nervous system that cause muscle weakness, sensory disturbances, and reduced reflexes. These disorders often begin in childhood and progress slowly, gradually impairing motor and sensory functions.
Request Test
- Sample material: EDTA whole blood
- Testing method: Next-generation sequencing (if applicable, Sanger sequencing, MLPA, molecular diagnostics using PCR)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific testing services in this area:
| INDICATION | ANALYSIS |
| Fragile X Syndrome (FXS) | Single gene analysis (FMR1) |
| Hereditary Neuropathy | Gene panel |
| Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) | Single gene analysis (PMP22) |
| Hereditary Motor and Sensory Neuropathy, Type 1A (HMSN1A, CMT1A) | Single gene analysis (PMP22) |
The genes examined in the respective gene panels are always based on the current versions of Genomics England PanelApp, PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical presentation, it is possible to request exome sequencing based on phenotypic features.