#ExistInterpData>Background Information for LMNA-Related Disorders (LMNA) Deletion/Duplication:
Characteristics of Laminopathies: Mutations in the lamin A/C (LMNA) gene cause a broad range of clinical diseases collectively termed laminopathies. Clinical findings are highly variable.
Emery-Dreifuss muscular dystrophy, type 2 (EDMD2): Joint contractures, progressive muscle weakness and wasting, and cardiac disease with conduction defects and arrhythmias.
Inheritance: Autosomal dominant or de novo.
Cause: Pathogenic LMNA gene mutations.
Clinical Sensitivity: Clinical sensitivity is dependent upon the specific LMNA-related disorder.
Methodology: Multiplex ligation-dependent probe amplification (MLPA) to detect large LMNA coding region deletions/duplications.
Analytical Sensitivity and Specificity of MLPA: 90 and 98 percent, respectively.
Limitations: Rare diagnostic errors can occur due to probe site mutations. Single base pair substitutions, small deletions/duplications, regulatory region mutations and deep intronic mutations will not be detected. Deletion/duplication breakpoints will not be determined. Mutations in genes other than LMNA will not be detected.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
||Emery-Dreifuss Muscular Dystrophy Type 2 (LMNA-Related Disorders (LMNA) Deletion/Duplication)