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University of Iowa Diagnostic Laboratories (UIDL) Department of Pathology Room 5231, RCP Iowa City, Iowa 52242-1181 319-384-7212 Tel 319-384-7213 Fax |
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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| Contact Information: |
UIDL Client Services Monday-Friday - 8:00 am-6:30 pm CST Saturday - 8:00 am-1:00 pm CST Phone - 866-844-2522 Fax - 319-384-7213 Technical Test Information Molecular Pathology Laboratory 319-384-9568 Genetic Counseling Christina Trout, RN Division of Medical Genetics 319-356-4017 |