DYSF

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#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

See GeneReview article on Dysferlinopathy

Patients with clinical picture consistent with a described disease, a family member of patient for carrier/heterozygous testing, or a member of a high risk population.

Mouth or buccal epithelial cells (call us for collection kit), or blood collected in standard Vacutainers of Purple/Lavender top (EDTA) or Yellow top (ACD). Other sources of DNA may be acceptable depending on quality and purity measures – please contact us before submitting such other specimens.

2-4 weeks in most cases. Expedited (STAT) testing is available for additional 25% charge, and results are available in 4-10 business days in most cases.

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.

Genomic DNA is isolated from the sample. The coding exons, and 40-100 bp of adjacent noncoding regions, are amplified by PCR. Each exon and flanking non-coding (intron) bases are sequenced by automated capillary electrophoresis using dye-terminator sequencing method (labeled dideoxynucleotide triphosphates, ddNTPs). DNA segments are tested by forward and reverse sequence runs to obtain a consensus sequence and confirm variation or mutation results.

For institutional accounts using grant awards or restricted funds, we guarantee lowest contact/bulk testing rates. Our pricing is based on CPT codes reasonable and customary charges, which may change slightly from year to year. We strive towards providing the needed testing services to every patient in need regardless of cost. On a case by case basis, we can provide free or pro-bono testing upon proof of financial difficulty.