Emery-Dreifuss Muscular Dystrophy (EDMD) Panel
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چکیده
The EDMD Panel provides a high quality read-out of all clinically relevant genes associated with channelopathies and ARVC. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and express service TAT 7-10 days). The EDMD Panel has undergone rigorous validation process during its evolution at Blueprint Genetics. Our unique sequencing technology combined with in-house built bioinformatics pipeline with channelopathy and ARVC mutation and knowledge database, together with our experienced team of geneticists and clinicians, forms the most efficient Emery-Dreifuss muscular dystrophy diagnostics service in the market. Our variant classification schemes and clinical interpretation processes have been developed and validated with thousands of patients with hereditary disease. Blueprint Genetics publically shares all classified variants identified in EDMD patients to improve future diagnostics (ClinVar; http://www.ncbi.nlm.nih.gov/clinvar/). Our mission is to improve the quality of diagnostics and management of hereditary muscular dystrophy patients and their families.
منابع مشابه
Emery dreifuss muscular dystrophy: a clinico-pathological study.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.
متن کاملEmery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD ...
متن کاملPerinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy.
Introduction Autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects. Here, we present the case of a patient diagnosed with AD-EDMD during the first trimester of pregnancy who developed acute preeclampsia and subsequently, congestive heart failure (CHF) following cesarean section. C...
متن کاملA novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis.
We present a 26 year old female Indonesian patient with full spectrum Emery Dreifuss Muscular Dystrophy (EDMD) characterized with contracture of elbows, heel cord and pelvic muscle wasting and weakness and atrial paralysis, as rare cardiac findings in EDMD . A novel de novo pathogenic heterozygous missense mutation (NM_170707.3: c.122G>T, p.Arg41Leu) in exon 1 was detected. Preventing atrial pa...
متن کاملMolecular signatures of Emery-Dreifuss muscular dystrophy.
Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery-Dreifuss muscular dystrophy). The molecular mechanisms underlying these disorders are poorly understood; however, recent work using animal mode...
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