RYR1 related Myopathies and Malignant Hyperthermia susceptibility
RYR1 testing for RYR1 related Myopathies and Malignant Hyperthermia susceptibility (Germline DNA)
Systemic Autoinflammatory Diseases
Testing for related genes (ADA2, NOD2, MVK or MEFV) for Systemic Autoinflammatory Diseases (Germline DNA)
Spinocerebellar Ataxias (SCA)
Testing for Spinocerebellar Ataxias (SCA) (Germline DNA).
Familial SHOX gene related disorders
SHOX testing for familial SHOX related disorders (Germline DNA).
Spinal Muscular Atrophy (SMA)
SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.
Wilson Disease
ATP7B testing for Wilson Disease (Germline DNA)