January 2015 Monthly Test Updates

Published on 01/20/15
Molecular Testing
Test NameTest CodeTest Type
Arrhythmias: Deletion/Duplication PanelMD093CGH array
Long and Short QT Syndrome: Deletion/Duplication PanelMD094CGH array
Brugada Syndrome: Deletion/Duplication PanelMD095CGH array
Pulmonary Hypertension: Deletion/Duplication PanelMD098CGH array
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Deletion/Duplication PanelMD099CGH array
Multiple Epiphyseal Dysplasia: Deletion/Duplication PanelMD100CGH array
Congenital Myasthenic Syndromes: Deletion/Duplication PanelMD110CGH array
Lysosomal Storage Disorders: Deletion/Duplication PanelMD120CGH array
Bardet-Biedl Syndrome: Deletion/Duplication PanelMD132CGH array
Joubert Syndrome: Deletion/Duplication PanelMD136CGH array
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication PanelMD139CGH array
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum: Deletion/Duplication PanelMD140CGH array
Glycogen Storage Disorders: Deletion/Duplication PanelMD150CGH array
Glycogen Storage Disorders- Liver: Deletion/Duplication PanelMD151CGH array
Glycogen Storage Disorders- Muscle: Deletion/Duplication PanelMD152CGH array
Inflammatory Bowel Disease: Deletion/Duplication PanelMD160CGH array
Skeletal Dysplasia: Deletion/Duplication PanelMD170CGH array
Disproportionate Short Stature: Deletion/Duplication PanelMD171CGH array
Skeletal Dysplasia With Increased Bone Density: Deletion/Duplication PanelMD172CGH array
Osteogenesis Imperfecta and Decreased Bone Density: Deletion/Duplication PanelMD173CGH array
Limb Malformation: Deletion/Duplication PanelMD174CGH array
Hereditary Periodic Fever Syndromes: Deletion/Duplication PanelMD180CGH array
Hearing Loss: Deletion/Duplication PanelMD190CGH array
Hereditary Cancer Syndrome: Deletion/Duplication PanelMD200CGH array
Wilms Tumor: Deletion/Duplication PanelMD207CGH array
Maturity Onset Diabetes of the Young (MODY): Deletion/Duplication PanelMD220CGH array
Neuronal Ceroid-Lipofuscinoses: Deletion/Duplication PanelMD231CGH array
Stickler Syndrome: Deletion/Duplication PanelMD236CGH array
Usher Syndrome: Deletion/Duplication PanelMD237CGH array
Pulmonary Disease: Deletion/Duplication PanelMD240CGH array
Bronchiectasis: Deletion/Duplication PanelMD241CGH array
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Deletion/Duplication PanelMD242CGH array
Cystic Lung Disease: Deletion/Duplication PanelMD243CGH array
Congenital Central Hypoventilation Syndrome: Deletion/Duplication PanelMD244CGH array
Brain Malformations: Deletion/Duplication PanelMD250CGH array
Macrocephaly: Deletion/Duplication PanelMD260CGH array
Connective Tissue Disorders: Deletion/Duplication PanelMD270CGH array
Neurology: Deletion/Duplication PanelMD280CGH array
Endocrine Disorders: Deletion/Duplication PanelMD290CGH array
Mitochondrial Diseases - Nuclear Genes Only: Deletion/Duplication PanelMD300CGH array
Inherited Metabolic Disorders: Deletion/Duplication PanelMD310CGH array
Severe Combined Immunodeficiency (SCID) B+: Deletion/Duplication PanelMD320CGH array
Severe Combined Immunodeficiency (SCID) B-: Deletion/Duplication PanelMD330CGH array
Neonatal and Adult Cholestasis: Deletion/Duplication PanelMD340CGH array
Hereditary Neuropathies: Deletion/Duplication PanelMD350CGH array
Hyper IgE Syndromes: Deletion/Duplication PanelMD370CGH array
Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication PanelMD390CGH array
Cerebral Cavernous Malformation: Deletion/Duplication PanelMD410CGH array
Hypohidrotic Ectodermal Dysplasia: Deletion/Duplication PanelMD420CGH array
ELN-related Disorders: Deletion/Duplication PanelMD440CGH array
Severe Combined Immunodeficiency (SCID) B+/B-: Deletion/Duplication PanelMD450CGH array
Cornelia de Lange Syndrome: Deletion/Duplication PanelMD460CGH array

Recent Test Updates

 The AMPD3 gene has been removed from the following panels:

  • MM360 Expanded Neuromuscular Disorders: Sequencing Panel
  • MD360 Expanded Neuromuscular Disorders: Deletion/Duplication Panel
  • MNEU1 Neuromuscular Disorders: Sequencing Panel
  • DNEU1 Neuromuscular Disorders: Deletion/Duplication Panel

The RPN2 gene has been removed from the following panels:

  • MCDG1 Congenital Disorders of Glycosylation: Sequencing Panel
  • DCDG1 Congenital Disorders of Glycosylation: Deletion/Duplication Panel

 The CYP27A1 gene has been added to the following panels:

  • MM030 Eye Disorders: Comprehensive Sequencing Panel
  • MM021 Autism Spectrum Disorders: Tier 2 Panel
  • MEPI1 Epilepsy and Seizure Disorders: Sequencing Panel
  • MM550 Dystonia: Sequencing Panel
  • MM280 Neurology: Sequencing Panel
  • MM310 Inherited Metabolic Disorders: Sequencing Panel

The PRRT2 gene has been removed from the following Panel:

  • DEPI1 Epilepsy and Seizure Disorders: Deletion/Duplication Panel

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

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