Diagnosis of spinocerebellar ataxia Cerebral magnetic resonance imaging
(MRI) 1,5 Tesla Available, funded Available but not funded Not available Don't know 3 Tesla Available, funded Available but not funded Not available Don't know Evoked potentials Auditory evoked potentials (AEPs) Available, funded Available but not funded Not available Don't know Visual evoked potentials (VEPs) Available, funded Available but not funded Not available Don't know Sensory evoked potentials (SEPs) Available, funded Available but not funded Not available Don't know Neurography Available, funded Available but not funded Not available Don't know Patient history Available, funded Available but not funded Not available Don't know Family history Available, funded Available but not funded Not available Don't know Ethnic and geographic origin Available, funded Available but not funded Not available Don't know Assessment scales Scale for the assessment and rating Available, funded Available but not funded Not available Don't know SCA functional composite (SCA-FC) Available, funded Available but not funded Not available Don't know International cooperative ataxia rating Available, funded Available but not funded Not available Don't know Inventory of non-ataxia symptoms (INAS) Available, funded Available but not funded Not available Don't know Neuropsychological tests Available, funded Available but not funded Not available Don't know Cerebrospinal fluid tests Available, funded Available but not funded Not available Don't know Blood tests Available, funded Available but not funded Not available Don't know Genetic tests SCA1 Available, funded Available but not funded Not available Don't know SCA2 Available, funded Available but not funded Not available Don't know SCA3 Available, funded Available but not funded Not available Don't know SCA6 Available, funded Available but not funded Not available Don't know SCA7 Available, funded Available but not funded Not available Don't know SCA17 Available, funded Available but not funded Not available Don't know other SCA genes Available, funded Available but not funded Not available Don't know DRPLA Available, funded Available but not funded Not available Don't know FRDA Available, funded Available but not funded Not available Don't know Other ataxia related genes Available, funded Available but not funded Not available Don't know Molecular techniques available PCR techniques Available, funded Available but not funded Not available Don't know Triplet repeat primed PCR (TP-PCR) Available, funded Available but not funded Not available Don't know Southern blot Available, funded Available but not funded Not available Don't know Sequencing Available, funded Available but not funded Not available Don't know
Diagnosis of Duchenne muscular dystrophy (DMD) Limited deletion / duplication analysis: This question has been deprecated MLPA analysis: Available, funded Available but not funded Not available Don't know Point mutation detection: Available, funded Available but not funded Not available Don't know Dystrophin analysis on muscle biopsy: Available, funded Available but not funded Not available Don't know Diagnosis of spinal muscular atrophy (SMA) SMN 1 deletion test: Available, funded Available but not funded Not available Don't know SMN 1 point mutation test: Available, funded Available but not funded Not available Don't know SMN 2 copy number: Available, funded Available but not funded Not available Don't know (DEPRECATED) Diagnosis of Ullrich congenital muscular dystrophy (UCMD) Muscle biopsy: This question has been deprecated COL6A1/2/3 sequencing: This question has been deprecated Fibroblast culture: This question has been deprecated (DEPRECATED) Diagnosis of congenital muscular dystrophy type 1A
(MDC1A) Muscle biopsy: This question has been deprecated LAMA2 sequencing: This question has been deprecated Fibroblast culture: This question has been deprecated Diagnosis of congenital myasthenic syndrome (CMS) Motor and sensory nerve conduction: Available, funded Available but not funded Not available Don't know Repetitive nerve stimulation: Available, funded Available but not funded Not available Don't know Single fibre EMG: Available, funded Available but not funded Not available Don't know Electromyography (EMG): Available, funded Available but not funded Not available Don't know CHRNE genetic testing: This question has been deprecated COLQ genetic testing: This question has been deprecated DOK7 genetic testing: This question has been deprecated RAPSN genetic testing: This question has been deprecated Expanded Panel (the above plus MUSK, This question has been deprecated NGS Panel: Available, funded Available but not funded Not available Don't know WES: Available, funded Available but not funded Not available Don't know WGS: Available, funded Available but not funded Not available Don't know Diagnosis of Charcot-Marie-Tooth disease (CMT) Motor nerve conduction: Available, funded Available but not funded Not available Don't know Repetitive nerve stimulation: This question has been deprecated PMP22 duplication and deletion test: Available, funded Available but not funded Not available Don't know Electromyography (EMG): Available, funded Available but not funded Not available Don't know NGS Panel: Available, funded Available but not funded Not available Don't know WES: Available, funded Available but not funded Not available Don't know WGS: Available, funded Available but not funded Not available Don't know Diagnosis of muscular channelopathy Electromyography (EMG): Available, funded Available but not funded Not available Don't know CACNA1S genetic testing: This question has been deprecated SCN4A genetic testing: This question has been deprecated CLCN1 genetic testing: This question has been deprecated DM1 genetic testing: Available, funded Available but not funded Not available Don't know DM2 genetic testing: Available, funded Available but not funded Not available Don't know CACNA1A genetic testing: This question has been deprecated KCN1A genetic testing: This question has been deprecated NGS panel: Available, funded Available but not funded Not available Don't know WES: Available, funded Available but not funded Not available Don't know WGS: Available, funded Available but not funded Not available Don't know Diagnosis of rare myopathies and muscular dystrophies (LGMDs, CMs, and CMDs)) Muscle biopsy: Available, funded Available but not funded Not available Don't know EMG: Available, funded Available but not funded Not available Don't know NGS Panel: Available, funded Available but not funded Not available Don't know WES: Available, funded Available but not funded Not available Don't know WGS: Available, funded Available but not funded Not available Don't know
