|LMNA (Lamin A/C) Gene Sequencing||
Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
|Container Type||Container Size||Specimen Volume|
Purple tube (EDTA)
|4 mL||4 mL-8 mL|
Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)
- Do not freeze
- Do not centrifuge
Reasons for Rejection
- Centrifuged specimen
- Frozen specimen
- Wrong collection tube
- Clotted specimen
- Delayed or improper handling
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 but not required. If available, please also submit muscle biopsy results.
This test is a full gene sequencing of the LMNA gene. Pathogenic variants (mutations) in the LMNA gene 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).