IMPORTANCE OF RAPID MOLECULAR DIAGNOSIS FOR GENETIC DISEASES WITH TREATMENT

Figure 1. Result of MLPA of the patient´s DNA with suspected AME type I. A homozygous deletion (exons 7 and 8) is observed of SMN1 gene (0 copies), as well as four copies for the SMN2 gene. Thus, the diagnostic suspicion is confirmed.

It is presented the diagnosis of Spinal Muscular Atrophy (AME in Spanish language) performed in the Molecular Genetics laboratory by means of an MLPA study (Multiplex Ligations Probe Amplification) by SALSA MLPA-P060-B2 (MRC-Holland®, Netherlands), furthermore SALSA MLPA-P021 is used to confirm the diagnosis(1). This method allows us to know the copy number of the survival genes of the motor neuron (SMN1 and SMN2) in a fast and reliable way (95% sensitivity and 100% specificity).