Clinical Study

A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis

Table 2

Mutations within the DMD gene—all patient samples.

PatientReferral reason/phenotypeGenotypePrevious testing method

1Duchenne muscular dystrophyc.1594C>T (p.Gln532X)Sanger sequencing
2Duchenne muscular dystrophyc.6439G>T (p.Glu2147X)Sanger sequencing
3Duchenne muscular dystrophyDeletion exons 3–7MLPA
4Duchenne muscular dystrophyDeletion exons 3–44MLPA
5Carrier of Becker muscular dystrophy Deletion exons 45–47MLPA
6Duchenne muscular dystrophyDuplication exons 10, 11Southern blot
7Prenatal test for Becker muscular dystrophy (foetus of patient 5)Deletion exons 45–47
8Becker muscular dystrophyDuplication exon 12
9Duchenne muscular dystrophyDeletion exons 45–48
10Duchenne muscular dystrophyc.5199_5209del (p.Thr1734SerfsX10)No previous testing performed
11Becker muscular dystrophyNo mutation detected
12 Carrier of Duchenne muscular dystrophy (mother of patient 3)Heterozygous deletion exons 3–7
13 Carrier of Duchenne muscular dystrophy (mother patient 4)Heterozygous deletion exons 45–47
14 Carrier of Becker muscular dystrophy (mother of patient 8)Duplication exon 12 NOT detected