| Interpretive Data: |
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.
Limb-girdle muscular dystrophy, type1B (LGMD1B): Progressive proximal lower limb weakness and atrioventricular cardiac conduction complications.
Dilated cardiomyopathy (DCM): Progressive ventricular dilation and impaired systolic function leading to congestive heart failure.
Incidence: Unknown.
Inheritance: Autosomal dominant or de novo.
Penetrance: Variable.
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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83896 x12 Nucleic acid probes; 83898 x12 Amplification; 83914 x12 Extension; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
Dilated Cardiomyopathy (LMNA-Related Disorders (LMNA) Deletion/Duplication)
, Emery-Dreifuss Muscular Dystrophy Type 2 (LMNA-Related Disorders (LMNA) Deletion/Duplication)
, Limb Girdle Muscular Dystrophy 1B (LMNA-Related Disorders (LMNA) Deletion/Duplication)
, Muscular Dystrophy Associated Laminopathies (LMNA-Related Disorders (LMNA) Deletion/Duplication)
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