GENETIC TESTING SOLUTIONS FOR: STORAGE DISORDERS EGL Genetics has nearly 50 years of genetic testing history built upon a strong academic foundation. Our expertise spans common and rare genetic disease testing, genomic variant interpretation, test development and research. As we have grown, we have evolved into a high-science and high-performing CLIA-certifi ed and CAP-accredited laboratory with over 1,100 test offerings across biochemical genetics, cytogenetics, and molecular genetic testing. COMPREHENSIVE OFFERINGS Lysosomal storage disorders and glycogen storage disorders (GSDs) with numerous subtypes, wide-ranging phenotypes and multi-organ and system involvement, which are often impossible to diagnose based on clinical features alone. EGL Genetics offers disease-specifi c, as well as, comprehensive biochemical and molecular testing to pinpoint the underlying cause of symptoms. Identifi cation of a causative genetic defect may provide information for prognosis and therapeutic intervention, and is required for carrier testing and early prenatal diagnosis. Lysosomal Storage Disorders • Mucopolysaccharidoses • Sphingolipidoses • Oligosaccharidoses Glycogen Storage Disorders ADVANTAGES OF PARTNERING WITH EGL GENETICS: • Board-certifi ed laboratory directors & genetic counselors to answer clinical and analytical questions • EGL Genetics’ oligosaccharide screening method provides additional information and more targeted follow-up pathways than traditional qualitative screens • Customizable NGS panels with add-on genes available upon request for no additional charge • Commitment to accurate sequence variant classifi cation: Free targeted parental testing for up to two variants of unknown signifi cance following proband only testing, plus complementary periodic variant review and report updates, variant database publicly available, and open data sharing via ClinVar • Competitive turnaround times for all testing with expedited testing when clinically indicated • Client portal for convenient result delivery • Billing experts & insurance specialists available to assist with pricing, payments, insurance coverage, prior-authorizations, and more 2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447 STORAGE DISORDERS (BIOCHEMICAL GENETICS) DISEASE TEST CODE TEST NAME Storage Disorders LM Alpha-Mannosidosis: Alpha-Mannosidase Enzyme Activity, Leukocytes Storage Disorders LO Beta-Galactosidase Defi ciency: Beta-Galactosidase Activity, Leukocytes Storage Disorders LN Beta-Mannosidosis: Beta-Mannosidase Enzyme Activity, Leukocytes Storage Disorders LB Fabry Disease: Alpha-Galactosidase Enzyme Activity, Leukocytes Storage Disorders BGBCU Fabry Disease: Globotriaosylceramide (Gb3) Quantifi cation, Urine Storage Disorders BSAU Free Sialic Acid Quantifi cation, Urine Storage Disorders LP Fucosidosis: Alpha-Fucosidase Enzyme Activity, Leukocytes Storage Disorders AG Gaucher Disease: Angiotensin Converting Enzyme (ACE) Enzyme Activity, Serum Storage Disorders LG Gaucher Disease: Beta-Glucosidase Enzyme Activity, Leukocytes Storage Disorders BM Gaucher Disease: Biomarker Panel (ACE, CHITO, TRAP) Enzyme Activities, Serum Storage Disorders CZ Gaucher Disease: Chitotriosidase (CHITO) Enzyme Activity, Serum Storage Disorders TT Gaucher Disease: Tartrate Resistant Acid Phosphatase (TRAP) Enzyme Activity, Serum Storage Disorders LS Lysosomal Storage Disease: Panel Enzyme Activity (11 Enzymes), Leukocytes Storage Disorders BLSDS Lysosomal Storage Disorders: Urine Screening Storage Disorders LR Mucopolysaccharidosis Type I (Hurler Syndrome): Alpha-L-Iduronidase Enzyme Activity, Leukocytes Storage Disorders BMPS6 Mucopolysaccharidosis Type VI (Maroteaux Lamy Syndrome): Arylsulfatase B Enzyme Activity, Leukocytes Storage Disorders LQ Mucopolysaccharidosis Type VII (Sly Syndrome): Beta-Glucuronidase Enzyme Activity, Leukocytes Storage Disorders GA Mucopolysaccharidosis: Glycosaminoglycans (GAGs), Quantitative and Qualitative, Urine Storage Disorders DW Pompe Disease: Acid Alpha-Glucosidase Enzyme Activity, Leukocytes Storage Disorders HC Tay-Sachs Disease: Hex A Activity, WBC Storage Disorders OS Oligosaccharidosis and Congenital Disorders of Glycosylation: High resolution Oligosaccharide (Free Glycan) Profi le, Urine STORAGE DISORDERS (MOLECULAR GENETICS) DISEASE TEST CODE TEST NAME Glycogen Storage Disorders QL Glycogen Storage Disease V (McArdle Disease): PYGM Gene Sequencing Glycogen Storage Disorders QM Glycogen Storage Disease V (McArdle Disease): PYGM Gene Deletion/Duplication Glycogen Storage Disorders MM151 Glycogen Storage Disorders- Liver: Sequencing Panel 2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447 STORAGE DISORDERS (MOLECULAR GENETICS) DISEASE TEST CODE TEST NAME Glycogen Storage Disorders MM152 Glycogen Storage Disorders- Muscle: Sequencing Panel Glycogen Storage Disorders MM150 Glycogen Storage Disorders: Comprehensive Sequencing Panel Glycogen Storage Disorders MD150 Glycogen Storage Disorders: Deletion/Duplication Panel Lysosomal Storage Disorders DG Fabry Disease: GLA Gene Sequencing Lysosomal Storage Disorders KX Fabry Disease: GLA Gene Deletion/Duplication Lysosomal Storage Disorders AK Gaucher Disease: GBA Gene Sequencing Lysosomal Storage Disorders DU GM1 Gangliosidosis: GLB1 Gene Sequencing Lysosomal Storage Disorders KZ GM1 Gangliosidosis: GLB1 Gene Deletion/Duplication Lysosomal Storage Disorders KR Krabbe Disease: GALC Gene Sequencing Lysosomal Storage Disorders LD Krabbe Disease: GALC Gene Deletion/Duplication Lysosomal Storage Disorders MM120 Lysosomal Storage Disorders: Sequencing Panel Lysosomal Storage Disorders MD120 Lysosomal Storage Disorders: Deletion/Duplication Panel Lysosomal Storage Disorders AV Metachromatic Leukodystrophy: ARSA Gene Sequencing Lysosomal Storage Disorders LI Metachromatic Leukodystrophy: ARSA Gene Deletion/Duplication Lysosomal Storage Disorders BO Mucopolysaccharidosis Type I: IDUA Gene Sequencing Lysosomal Storage Disorders LL Mucopolysaccharidosis Type I: IDUA Gene Deletion/Duplication Lysosomal Storage Disorders BQ Mucopolysaccharidosis Type II: IDS Gene Sequencing Lysosomal Storage Disorders LW Mucopolysaccharidosis Type II: IDS Gene Deletion/Duplication Lysosomal Storage Disorders FQ Mucopolysaccharidosis Type III: SGSH, GNS, HGSNAT, and NAGLU Gene Sequencing Panel Lysosomal Storage Disorders HV Mucopolysaccharidosis Type III: SGSH, GNS, HGSNAT, and NAGLU Gene Deletion/Duplication Panel Lysosomal Storage Disorders BY Niemann-Pick Disease (Type A and B): SMPD1 Gene Sequencing Lysosomal Storage Disorders ND Niemann-Pick Disease (Type A and B): SMPD1 Gene Deletion/Duplication Lysosomal Storage Disorders BZ Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Sequencing Lysosomal Storage Disorders NE Niemann-Pick Disease Type C: NPC1 & NPC2 Gene Deletion/Duplication Lysosomal Storage Disorders AN Pompe Disease: GAA Gene Sequencing Lysosomal Storage Disorders NF Pompe Disease: GAA Gene Deletion/Duplication Lysosomal Storage Disorders DA Sandhoff Disease: HEXB Gene Sequencing Lysosomal Storage Disorders NG Sandhoff Disease: HEXB Gene Deletion/Duplication Lysosomal Storage Disorders DD Tay-Sachs Disease: HEXA Gene Sequencing Lysosomal Storage Disorders NH Tay-Sachs Disease: HEXA Gene Deletion/Duplication 2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447 PARTNERING WITH EGL GENETICS EXPERIENCE MATTERS Nearly 50 years of comprehensive clinical genetic testing by board-certifi ed ABMGG laboratory directors reporting over 675,000 results- because experience matters. One of the fi rst laboratories in the genetics industry with exome sequencing, gene targeted array CGH, constitutional microarrays, congenital disorders of glycosylation, and rare disease testing. ORDER THE RIGHT GENETIC TESTS FOR YOUR PATIENTS EGL offers many subpanels as well as single gene testing to meet the individual needs of your patient. If your patient’s clinical presentation warrants more focused testing, EGL is happy to meet that need. To fi nd additional test offerings, including subpanels and specifi c genes, please visit our website (http://www.egl-eurofi ns.com) to search our comprehensive test menu. For assistance fi nding a particular gene or test, laboratory genetic counselor can be reached by: Phone: (470) 378-2200 Email: eglgc@egl-eurofi ns.com CONTRIBUTIONS TO THE GENETICS COMMUNITY | ClinVar and EmVClass EGL is committed to ensuring clients and their patients are kept as up-to-date as possible concerning the classifi cation of sequence variants. EGL was one of the fi rst clinical diagnostic laboratories to openly share data with the NCBI freely available public database ClinVar (>30,000 variants on >1,700 genes) and is also the only laboratory with a free online database (EmVClass), featuring a variant classifi cation search and report quest interface, which facilitates rapid interactive curation and reporting of variants. WE HAVE THE ANSWERS. Consolidate your testing needs with our industry-leading expertise in molecular genetics, cytogenetics, and biochemical genetic testing with a focus in rare disease testing. 2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447.