Feedback
LMNA-Related Disorders (LMNA) Deletion/Duplication
2004539
Ordering Recommendation

Confirm suspected laminopathy caused by LMNA deletions/duplications including Emery-Dreifuss muscular dystrophy type 2, Limb-girdle muscular dystrophy 1B or dilated cardiomyopathy.

Mnemonic
LMNA DD
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
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.
Incidence: Unknown.
Inheritance: Autosomal dominant orde 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
: Diagnostic errors can occur due to rare sequence variations. 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. Large deletions/duplications in exon 8 may not be detected. Mutations in genes other than LMNA will not be detected.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81479
Components
Component Test Code*Component Chart NameLOINC
2004540LMNA Deletion/Duplication Specimen
2004541LMNA Deletion/Duplication Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Emery-Dreifuss Muscular Dystrophy Type 2
  • LMNA deletion/duplcation assay