September 2014 Monthly Test Update

Published on 09/05/14
Molecular Testing
Test NameTest CodeTest Type
Pan-Ethnic Carrier Screen: Full Gene Sequencing, Including X-Linked Conditions (With Fragile X Repeat Analysis), and SMA Analysis - Females OnlyMM470Next Generation Sequencing
Pan-Ethnic Carrier Screen: Full Gene Sequencing, Including X-Linked Conditions (With Fragile X Repeat Analysis) - Females OnlyMM471Next Generation Sequencing
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA AnalysisMM472Next Generation Sequencing
Pan-Ethnic Carrier Screen: Full Gene SequencingMM473Next Generation Sequencing
Ashkenazi Jewish Carrier Screen: Full Gene Sequencing, Including Fragile X Repeat Analysis, and SMA Analysis - Females OnlyMM500Next Generation Sequencing
Ashkenazi Jewish Carrier Screen: Full Gene Sequencing, Including Fragile X Repeat Analysis - Females OnlyMM501Next Generation Sequencing
Ashkenazi Jewish Carrier Screen: Full Gene Sequencing and SMA AnalysisMM502Next Generation Sequencing
Ashkenazi Jewish Carrier Screen: Full Gene SequencingMM503Next Generation Sequencing
Retina/Photoreceptor Dystrophy: Sequencing and Deletion/Duplication PanelMM239Next Generation Sequencing
Cardiomyopathy: Sequencing and Deletion/Duplication PanelMM520Next Generation Sequencing
Ashkenazi Jewish BRCA Targeted Mutation PanelMSAJ3
Medical EmExome Array: Deletion/Duplication AnalysisEXODD

Recent Test Updates

EGL recently updated the following tests: 

  • MM200 Hereditary Cancer Syndrome: Sequencing Panel - Removed PMS1 from gene list
  • MM20 Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel - RemovingPMS1 from gene list
  • MM209 Gastrointestinal and Colorectal Cancer: Sequencing and Deletion/Duplication Panel - Removing PMS1 from gene list
  • MM200 Hereditary Cancer Syndrome: Sequencing Panel - Removing PMS1 from gene list
  • MM030 Eye Disorders: Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel - Removed mitochondrial genome from test and added variants for Leber hereditary optic neuropathy and retinitis pigmentosa and ataxi
  • MM091 Hypertrophic Cardiomyopathy: Sequencing and Deletion/Duplication Panel - Add JPH2, MYH6, MYOZ2, MYPN, and TTN to the gene list
  • MM092 Dilated Cardiomyopathy: Sequencing and Deletion/Duplication Panel - Add ABCC9, BAG3, CRYAB, DSG2, DSP, FKTN, GATAD1, LAMA4, LDB3, MYH6, MYPN, NEBL, TNNC1, andPDLIM3
  • MCAR1 Comprehensive Cardiovascular: Sequencing and Deletion/Duplication Panel - Add PDLIM3to gene list
  • MM280 Neurology: Sequencing Panel - Removed LARP7 from gene list

Turnaround Time Update

Please note that all single-gene deletion/duplication tests now have a reduced turnaround time, from 42 days to 28 days.

Test Requisitions - Things to Remember

Not completing a test requisition form entirely can sometimes lead to unnecessary delays in testing. Below are the most commonly missed items:

  • ICD9 codes
  • Policy holder name and date of birth
  • If any authorizations are obtained for the patient, please include a copy of the authorizations with the requisition
  • Medicare patients must have a signed Advance Beneficiary Notice of Non-coverage (ABN) included with the requisition, except for following BRCA-related test codes: MM070, MM071, MM072, and MM208. Please note, EGL does not pre-verify benefits for patients with Medicare.
  • Signature in the “Authorization to Assign Benefits” section
  • Front and back copy of the patient’s insurance card
  • Billing pages - regardless of the person or entity to be billed, please complete this information.

Prior Authorization Reminder

When it is determined that a prior authorization is needed for testing, the sample will be placed on a billing hold. EGL will notify the client as to what is required and help with any necessary paperwork.

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.