Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP) (PMP22 and optional gene panel testing for other CMT-associated genes).
Applicable to all labs undertaking molecular genetic testing for these disorders.
Myotonic dystrophy (DM) (Types 1 and/or 2)
Applicable to all labs undertaking molecular genetic testing for these disorders.
Duchenne / Becker Muscular Dystrophy (DMD / BMD) and optional gene panel testing for muscular dystrophies / hereditary myopathies
Applicable to all labs undertaking molecular genetic testing for these disorders.
Familial autosomal dominant hypercholesterolemia (FH)
Applicable to all labs undertaking molecular genetic testing for this disorder.
Fragile X Syndrome (FRAX)
Applicable to all labs undertaking molecular genetic testing for this syndrome (including those which cannot detect the ENTIRE range of expansions +/- methylation patterns).
Friedreich Ataxia (FRDA)
Applicable to all labs undertaking molecular genetic testing for this disorder.
