Rare Neurological Disease gene panel
Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
RYR1 related Myopathies and Malignant Hyperthermia susceptibility
Applicable to all labs undertaking molecular genetic testing for this group of disorders.
Systemic Autoinflammatory Diseases
Applicable for all labs undertaking molecular genetic testing for this group of disorders.
DNA SEQUENCING – SANGER
Applicable to any labs using Sanger sequencing as part of their testing process.
Spinocerebellar Ataxias (SCA)
Applicable to all labs undertaking molecular genetic testing for this group of ataxias.
Pharmacogenetics (DPYD / UGT1A1 only)
Applicable to all labs undertaking molecular testing of DPYD and/or UGT1A1 pharmacogenetic markers for drug response and efficacy.
