November 2016 Monthly Test Updates

Published on 11/01/16

New Test Launches and Updates

The below test launches are now live:
  • CFRSB STAT FISH Chromosomes 13, 18, 21, X, and Y
  • MM650 Rhabdomyolysis: Sequencing Panel
  • MM660 Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis (Previously test code MFMR1)
  • MM670 Mabry Syndrome: Sequencing Panel
  • MOFMR Premature Ovarian Failure: FMR1 CGG Repeat Analysis

The below test updates are now live:

  • AT Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis – Updated methodology for HBA1 and HBA2 (alpha-thal).
  • MM470 Pan-Ethnic Carrier Screen: Gene Sequencing Panel – Updated methodology for HBA1 and HBA2 (alpha-thal).
  • MM480 Pan-Ethnic Carrier Screen: Targeted Mutation Panel – Updated methodology for HBA1 and HBA2 (alpha-thal).
  • MM234 Optic Atrophy: Sequencing Panel – Added WFS1 to panel.
  • MD234 Optic Atrophy: Deletion/Duplication Panel – Added WFS1 to panel.
  • SCREB Optic Atrophy: Sequencing Panel – Updated CPT Code.
  • MFMR1 Premature Ovarian Failure: Sequencing Panel – Updated test code to MM660 and renamed panel "Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis."
  • MM120 Lysosomal Storage Disorders: Sequencing Panel – Added LYST, MYO5A, RAB27A, AP3B1, and CTSK to panel.
  • MM190 Hearing Loss: Deletion/Duplication Panel – Added DFNB59, FOXI1, and KCNQ4 to 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.