Lamin A/C Gene Sequencing Analysis Information
| Background: |
Mutations in the lamin A/C gene (LMNA; OMIM 150330) are known to cause a broad range of clinical diseases including autosomal dominant dilated cardiomyopathy (AD-DCM), Dunnigan-type familial partial lipodystrophy and partial lipodystrophy type 2, mandibuloacral dysplasia (MAD), Hutchinson-Gilford and Werner progeria syndromes and restrictive dermopathy. LMNA mutations are also causative for a number of neuromuscular disorders including autosomal dominant Emery-Dreifuss muscular
dystrophy (AD-EDMD), autosomal dominant limb-girdle muscular dystrophy (LGMD1B), and type 2B1 Charcot-Marie-Tooth disease (CMT2B1). A negative LMNA sequence test reduces the likelihood of a diagnosis of these disorders. However, because most laminopathies demonstrate heterogeneity, a negative test result does not rule out a diagnosis of these disorders when classic clinical findings are present. |
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