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Laboratory Test Directory

LMNA (Lamin A/C) Gene Sequencing

Components

Name Method Department Units
LMNA (Lamin A/C) Gene Sequencing Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
Sanger sequencing
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL-8 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not freeze
  • Do not centrifuge
  • Transport to laboratory as soon as possible

Reasons for Rejection

  • Centrifuged specimen
  • Frozen specimen
  • Wrong collection tube
  • Clotted specimen
  • Delayed or improper handling

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended. If available, please also submit muscle biopsy results.

This test is a full gene sequencing of the LMNA gene. Mutations in LMNA cause a variety of disorders including muscular dystrophy, cardiomyopathy, lipodystrophy, Charcot-Marie-Tooth type 2B1 (CMT2B1), restrictive dermopathy, and progeria. With the exceptions of Emery-Dreifuss muscular dystrophy, CMT2B1, and restrictive dermopathy, the laminopathies are inherited in autosomal dominant manner or occur as de novo conditions.

Targeted LMNA mutation analysis is available for family members when familial mutation is known (see Test Code: FMLIS).

 

 

Forms

Lab Form

CPT Code

  • 81406