Overview
Laminopathy testing (LMNA)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Screening, Risk Assessment, Monitoring, Pre-symptomatic
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Click Indication tab for more information.
All samples should be shipped via overnight delivery at room temperature.
No weekend or holiday deliveries.
Label each specimen with the patient’s name, date of birth and date sample collected.
Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://dnatesting.uchicago.edu/submitting-sample
Specimen source
Saliva
Chorionic villi
Frozen tissue
Amniocytes
Product of conception (POC)
Isolated DNA
Cell culture
Amniotic fluid
Peripheral (whole) blood
Cord blood
Fetal blood
Buccal swab
- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
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information.
Not provided
Dilated cardiomyopathy (DCM) is a severe disease of heart muscle characterized by progressive ventricular dilation and impaired systolic function and is a major cause of congestive heart failure. The prevalence of DCM is estimated at 1 in 2,500 individuals, with inherited forms accounting for 30-50%. Inherited forms of DCM show clinical variability and are a genetically heterogeneous group. Mutations of the Lamin A/C gene (LMNA) have been identified in ~8% of all DCM patients. Of the subset of inherited DCM patients with accompanying conduction disease, LMNA mutations are present in 40-50% of cases. LMNA-associated DCM is inherited in an autosomal dominant fashion.
Emery-Dreifuss Muscular Dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and late onset cardiomyopathy and arrhythmia. EDMD can be either X-linked or autosomal dominant in inheritance, and the vast majority of autosomal dominant cases are due to mutations in the LMNA gene.
The Limb Girdle Muscular Dystrophies (LGMD) are a genetically heterogenous group of disorders. One form, LGMD1B, is autosomal dominant with slowly progressive limb girdle muscular dystrophy, age-related atrioventricular cardiac conduction disturbances, and the absence of early contractures. Mutations of the LMNA gene are the basis of LGMD1B.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder, estimated to affect 1 in 4 million individuals, that causes clinical features in childhood that are associated with premature aging. Such features may include hair loss, growth retardation, joint degeneration, and atherosclerosis. Children with HGPS tend to appear normal at birth and usually have normal motor and mental development, but severe growth retardation is observed by 2 years of age. A vast majority of patients with HGPS have a LMNA G608G mutation, but other mutations in LMNA have been reported.
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder caused by LMNA mutations, which results in post-natal growth retardation, craniofacial and skeletal anomalies, and mottled cutaneous pigmentation. Symptoms become evident after 4 years of life and first present with growth retardation.
Charcot-Marie-Tooth type 2B1 is an axonal autosomal recessive laminopathy and neuropathy, characterized predominantly by symmetrical distal muscle weakness and atrophy. Individuals initially present with depressed or absent tendon reflexes with weakness of foot dorsiflexion at the ankle. The average age of onset is 14 years.
Familial partial lipodystrophy (FLPD), Dunnigan type, is an autosomal dominant disease characterized by the progressive loss of subcutaneous fat from the extremities. A muscular appearance with prominent superficial veins results, and excess fat accumulates on the face and neck. Prior to puberty, patients have a normal fat distribution.
Citations- 1. Taylor MRG, et al. “Natural History of dilated cardiomyopathy due to lamin A/C gene mutations”. (2003) J. Am. College of Cardiology 41:771-780 2. Fatkin et al. “Missense mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease”. (1999) N. Eng. J. Med. 341:1715-1724. 3. Bonne et al. “Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy”. (1999) Nat. Genet. 21:285-288. 4. Muchir et al. “Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)”. (2000) Hum. Mol. Genet. 9:1453-1459. 5. Erickson et al. “Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome”. (2003) Nature 423(6937): 293-298. 6. Novelli G, et al. “Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C”. (2002) Am. J. Hum. Genet. 71:426-431. 7
- Custom Sequence Analysis
- Clinical Testing/Confirmation of Mutations Identified Previously
- Confirmation of research findings
- Custom Prenatal Testing