====== DYSF ====== ---- dataentry testdata ---- #SINGLE GENE TEST, DELETE IF USING PGENE PANEL above Test-Type : single_gene #single_gene, gene_panel, other. Used to filter display Gene : DYSF, DYSFERLIN #Same as page title for single_gene tests OMIM_omim : 603009 #Only use fo single_gene tests #NEEDED BY ALL TEST TYPES Diseases : Miyoshi muscular dystrophy 1, Limb Girdle Muscular Dystrophy type 2B (LGMD2B), #disease 1, disease 2. for different names of same disease use OR CPTs : 83890 x1, 83898 x59, 83894 x5, 83891 x1, 83904 x118, 83912 x1 ---- ===== Clinical Description ===== /* Search genereviews */ See GeneReview article on [[http://www.ncbi.nlm.nih.gov/books/NBK1303/ | Dysferlinopathy]] ===== Test Indication ===== #@genetestindication@# ===== Specimen ===== #@genetestspecimen@# ===== Turnaround Time ===== #@genetestturnaround@# ===== Test Method ===== Dysferlin is encoded by DYSF, a 55 exon gene on chromosomal locus 2p13. As indicated, we will also perform sequencing of any single exon or pair of exons for family members of patients with known mutations and to confirm previous research results. #@genetestmethod@# /* Write about panel 1, panel 2, panel 3, and add Sensitivity heading if needed */ ===== Reference Sequences ===== ^ Genomic ^ mRNA ^ Protein ^ | [[ gb> NC_000002.10 ]] | [[ gb> NM_001130978.1 ]] | [[ gb> NP_001124450.1 ]] [[ccds> CCDS46326.1 ]]| ===== Pricing ===== #@pricingpolicy@# ~~NOTOC~~