GNE

—- dataentry testdata —- Gene : GNE, UDP-GlcNAc 2-Epimerase/ManNAc Kinase OMIM_omim : 603824 Diseases : Hereditary Inclusion Body Myopathy (HIBM) or Distal Myopathy with Rimmed Vacuoles (DMRV) or GNE myopathy or Nonaka Myopathy CPTs : 83890 x1, 83898 x13, 83894 x1, 83891 x1, 83904 x26, 83912 x1 Test-Type : single_gene #Used to filter results in table

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.

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.