Ordering Recommendation

Confirm suspected laminopathy caused by LMNA mutations including Hutchinson-Gilford progreria, Emery-Dreifuss muscular dystrophy type 2, Limb-girdle muscular dystrophy 1B, Charcot-Marie-Tooth 2B1, Dunnigan type familial partial lipodystrophy, mandibulo-acral dysplasia, atypical Werner syndrome, restrictive dermopathy or dilated cardiomyopathy.




Polymerase Chain Reaction/Sequencing




14-21 days

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature


Unacceptable Conditions

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

Interpretive Data

Background Information for LMNA-Related Disorders (LMNA) Sequencing:
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.
Hutchinson-Gilford progeria syndrome (HGPS): Accelerated aging, profound failure to thrive, characteristic facies, alopecia, joint degeneration, growth retardation.  Average life span is 13 years.
Emery-Dreifuss muscular dystrophy, type 2 (EDMD2): Joint contractures, progressive muscle weakness and wasting, and cardiac disease with conduction defects and arrhythmias.
Familial partial lipodystrophy, Dunnigan type (FLPD): Post-pubescent progressive loss of subcutaneous fat from the extremities and excess fat accumulation on the face and neck.
Mandibuloacral dysplasia (MAD): Post-natal growth retardation, craniofacial and skeletal anomalies, mottled cutaneous pigmentation.
Atypical Werner syndrome (WS): Progeria-like syndrome with features of partial alopecia, premature aging, short stature, hypogonadism, osteoporosis, premature atherosclerosis, weak voice, cataracts.
Restrictive Dermopathy (RD): Skin tightness causes fetal akinesia or hypokinesia deformation sequence; disease is lethal.
At least 1 in 8 million for HGPS; DCM occurs in approximately 1 in 2,500 and is familial in 30-60 percent of cases of which approximately 8 percent are caused by LMNA gene mutations; unknown for other LMNA-related conditions. 
Laminopathies are inherited as autosomal dominant, recessive, or de novo.
Complete for HGPS; variable for other LMNA-related disorders.  
Pathogenic LMNA gene mutations.
Clinical Sensitivity:
Clinical sensitivity is dependant upon the specific LMNA-related disorder.
Bidirectional sequencing of the LMNA coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity:
99 percent.
: Diagnostic errors can occur due to rare sequence variations. Some regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
2004544 LMNA Sequencing Specimen
2004545 LMNA Sequencing 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.


  • Atypical Werner Syndrome
  • Emery-Dreifuss Muscular Dystrophy Type 2
  • Familial Partial Lipodystrophy, Dunnigan Type
  • Hutchinson-Gilford Progeria
  • Laminopathies
  • LMNA sequencing assay
  • Mandibulo-Acral Dysplasia
  • Restrictive Dermopathy
LMNA-Related Disorders (LMNA) Sequencing (INACTIVE as of 11/15/21)