Fig. 1.

Overview of the diagnostic test pathway used for testing rare genetic diseases. CPK = creatine phosphokinase; DMD = Duchenne muscular dystrophy; SMA; spinal muscular atrophy; LGMD = Limb girdle muscular dystrophy; MLPA = Multiplex ligation probe dependent amplification; NGS = Next generation sequencing; RFLP-PCR = Restriction fragment length polymorphism- polymerase chain reaction; GAG = Glycosaminoglycan; NPD = Niemman-Pick disease; MPS = Mucopolysaccharidosis; ML = Mucolipidosis; TP-PCR = Triplet prime repeat polymerase chain reaction