June 2016 Monthly Test Updates

Published on 06/01/16

New Test Launches and Updates

The following new tests are now available:

  • MSALP Hypophosphatasia: ALPL Gene Sequencing
  • DSALP Hypophosphatasia: ALPL Deletion/Duplication Analysis
  • MM630 Achalasia: Sequencing Panel

The below test updates are live:

  • MPCYP Cytochrome P450 (CYP)2C19: Genotyping Assay – Discontinued test
  • MPCOM Pharmacogenomics Panel: Genotyping Assay – Discontinued test
  • EXOME Medical EmExome: Clinical Exome Sequencing, Proband Only – Changed TAT to 12 weeks
  • EXOMA Medical EmExome: Clinical Exome Sequencing, Additional Family Member – Changed TAT to 12 weeks
  • EXOMT Medical EmExome: Clinical Exome Sequencing, Family Trios – Changed TAT to 12 weeks
  • SGNEX Congenital Disorder of Glycosylation, GNE-related: GNE Gene Sequencing - Changed TAT to 2 weeks
  • SSLC2 Glucose Transporter Type 1 Deficiency Syndrome: SLC2A1 Gene Sequencing - Changed TAT to 2 weeks
  • MM360 Expanded Neuromuscular Disorders: Sequencing Panel – Removed SYNE2
  • MD360 Expanded Neuromuscular Disorders: Deletion/Duplication Panel – Removed SYNE2
  • MM212 Limb-Girdle Muscular Dystrophy: Sequencing Panel – Removed SYNE2
  • MD212 Limb-Girdle Muscular Dystrophy: Deletion/Duplication Panel – Removed SYNE2
  • XM051 Infertility Panel: Female - Added the following genes: BMP15, FSHR, LHB, LHCGR, and ZP1. Updated price, CPT Codes, methodology, detection, and condition description to reflect gene additions. The panel's name was updated to "Infertility Panel: Female."
  • XM050 Infertility Panel: Male - Added the following genes: AR, CATSPER1, FSHR, and LHCGR. Updated price, CPT Codes, methodology, detection, and condition description to reflect gene additions. Updated TAT to 3 weeks. The panel's name was updated to "Infertility Panel: Male."
  • MFMR1 Premature Ovarian Failure: Sequencing Panel – Added the following genes: BMP15, CYP17A1, CYP19A1, DIAPH2, FIGLA, FOXL2, FSHR, GDF9, HFM1, LHCGR, LMNA, NOBOX, NR5A1, POF1B, POR, PSMC3IP, GALT, EIF2B2, EIF2B5, and EIF2B3. Updated price, CPT Codes, methodology, detection, and condition description to reflect gene additions. Updated TAT to 8 weeks. The panel's name was updatedto "Premature Ovarian Failure: Sequencing Panel."

New and Updated Gene Panels

Industry-leading number of gene panels

EGL Next Generation Sequencing Panels include comprehensive, evidence-based gene lists, improved turnaround times, and reduced pricing.