| Code | Display | French (fr) |
| OBSG |
General Observation |
Observation générale |
| INDIC |
Indication |
Indication |
| INVES |
Investigation |
Investigation |
| BMUS |
Muscle Biopsy |
Biopsie musculaire |
| BMET |
Metabolic Work-Up |
Bilan métabolique |
| CKIN |
Serum Creatine Kinase |
Créatine kinase sérique |
| CAAP |
Plasma Amino Acid Chromatography |
Chromatographie acides aminés plasmatiques |
| ACYL |
Acylcarnitines |
Acylcarnitines |
| IRMC |
Cerebral MRI |
IRM cérébrale |
| IRMM |
Muscle MRI |
IRM musculaire |
| SRMN |
NMR Spectroscopy |
Spectroscopie RMN |
| ECAR |
Cardiac Ultrasound |
Échographie cardiaque |
| EABD |
Abdominal Ultrasound |
Échographie abdominale |
| EEG |
Electroencephalogram (EEG) |
Électroencéphalogramme (EEG) |
| EMG |
Electromyography (EMG) |
Electromyographie (EMG) |
| OPHT |
Ophthalmological Examination |
Examen ophtalmologique |
| CONS |
Consanguinity |
Consanguinité |
| DSTA |
Patient Disease Status |
Statut de la maladie du patient |
| CTGR |
CTG Repeat Testing (Steinert Disease) |
Test répétitions CTG (maladie de Steinert) |
| GCNR |
GCN Repeat Testing (Oculopharyngeal Muscular Dystrophy) |
Test répétitions GCN (dystrophie musculaire oculopharyngée) |
| TGDD |
Deletions and Duplications Testing (Duchenne and Becker Dystrophies) |
Test délétions et duplication (dystrophies Duchenne et Becker) |
| CGH |
Comparative Genomic Hybridization |
Hybridation génomique comparative |
| TSXF |
Fragile X Syndrome Testing |
Test syndrome de X fragile |
| MMTH |
Missing Mother |
Mère manquante |
| MFTH |
Missing Father |
Père manquant |
| ETHN |
Ethnicity |
Ethnicité |
| PHEN |
Clinical Sign (HPO) |
Signe clinique (HPO) |
| CNVPG |
Genomic CNV analysis |
Analyse CNV pan-génomique |
| QFPCR |
Rapid detection of fetal aneuploidies (QF-PCR) |
Détection rapide des aneuploïdies (QF-PCR) |
| LPWGS |
CNV (Microarray/LP-WGS) |
CNV (micropuce/LP-WGS) |
| PG |
Gene Panel |
Panel de gènes |
| LP |
Lymphocyte Phenotyping |
Phénotypage lymphocytaire |