GENETIC TESTING SOLUTIONS FOR: ENDOCRINOLOGY, IMMUNOLOGY, GROWTH, AND SKELETAL 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 Hereditary endocrine diseases often involve disorders of sexual development and hormone production, and transient or permanent neonatal diabetes and maturity onset diabetes of the young. Hyper IgE syndromes are characterized by elevated levels of IgE, eczema, and recurrent skin and respiratory tract infections. Skeletal dysplasias are a heterogeneous group of more than 450 disorders with complex mechanisms. Clinical and biochemical features can be useful to assign patients to a general disease category, but identifying the precise molecular cause of these diseases may be the only option to determine the prognosis of, and to develop a targeted therapeutic strategy for patients with these disorders.

TEST OFFERINGS FOR THE FOLLOWING CLINICAL INDICATIONS: • Endocrine disorders • Overgrowth syndromes • Reproductive disorders • Immune defi ciencies • Skeletal dysplasias • Connective tissue disorders ADVANTAGES OF PARTNERING WITH EGL GENETICS: • Board-certifi ed laboratory directors & genetic counselors to answer clinical and analytical questions • Multiple sample collection options for DNA-based tests. Contact us to determine which collection option is best for your patient • 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 ENDOCRINE DISORDERS DISEASE TEST CODE TEST NAME Diabetes / Hyperinsulinemia SHADH Hyperinsulinemic Hypoglycemia: HADH Gene Sequencing Diabetes / Hyperinsulinemia DHADH Hyperinsulinemic Hypoglycemia: HADH Gene Deletion/Duplication Diabetes / Hyperinsulinemia MM220 Maturity Onset Diabetes of the Young (MODY): Sequencing Panel Diabetes / Hyperinsulinemia MD220 Maturity Onset Diabetes of the Young (MODY): Deletion/Duplication Panel Diabetes / Hyperinsulinemia TU Uniparental Disomy of Chromosome 6 (UPD6): Methylation Analysis Endocrine Disorders MM290 Endocrine Disorders: Sequencing Panel Endocrine Disorders MD290 Endocrine Disorders: Deletion/Duplication Panel Hypothyroidism ZL Bamforth Lazarus Syndrome: FOXE1 Gene Sequencing Hypothyroidism DFOXE Bamforth Lazarus Syndrome: FOXE1 Gene Deletion/Duplication Hypothyroidism JQ Congenital Hypothyroidism: FOXE1 Gene Sequencing Hypothyroidism JR Congenital Hypothyroidism: FOXE1 Gene Deletion/Duplication Hypothyroidism PJ Congenital Hypothyroidism: PAX8 and FOXE1 Gene Sequencing Panel Hypothyroidism DCHTP Congenital Hypothyroidism: PAX8 and FOXE1 Gene Deletion/Duplication Panel Hypothyroidism KF Congenital Hypothyroidism: PAX8 Gene Sequencing Hypothyroidism KH Congenital Hypothyroidism: PAX8 Gene Deletion/Duplication Obesity MM132 Bardet-Biedl Syndrome: Sequencing Panel Obesity MD132 Bardet-Biedl Syndrome: Deletion/Duplication Panel Obesity MM600 Congenital Obesity: Sequencing Panel Obesity PW Prader-Willi/Angelman: Methylation Reproductive Disorders XM051 Infertility Panel: Female Reproductive Disorders XM050 Infertility Panel: Male Reproductive Disorders MOFMR Premature Ovarian Failure: FMR1 CGG Repeat Analysis Reproductive Disorders MM660 Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Reproductive Disorders YD Y-Chromosome: Microdeletion Analysis Reproductive Disorders DY Y-Chromosome: SRY Analysis

SHORT STATURE DISEASE TEST CODE TEST NAME Short Stature MM171 Disproportionate Short Stature: Sequencing Panel Short Stature MD171 Disproportionate Short Stature: Deletion/ Duplication Panel Short Stature XM011 Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array and Sequencing Panel

2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447 SHORT STATURE DISEASE TEST CODE TEST NAME Short Stature XM010 Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Russell-Silver Panel, UPD14 Analysis, and Sequencing Panel Short Stature MM011 Proportionate Short Stature/Small for Gestational Age: Russell-Silver Panel, UPD14 Analysis, and Sequencing Panel Short Stature MM012 Proportionate Short Stature/Small for Gestational Age: Sequencing Panel Short Stature MD010 Proportionate Short Stature/Small for Gestational Age: Deletion/Duplication Panel Short Stature RT Russell-Silver Syndrome: H19 Methylation Short Stature NZ Russell-Silver Syndrome: H19 Methylation and UPD7 Panel Short Stature NM Russell-Silver Syndrome: UPD7 Sequencing Short Stature 00 Uniparental Disomy of Chromosome 14 (UPD14): Methylation Analysis

SKELETAL DISEASE TEST CODE TEST NAME Connective Tissue Disorders MM270 Connective Tissue Disorders: Sequencing Panel Connective Tissue Disorders MD270 Connective Tissue Disorders: Deletion/Duplication Panel Limb Malformations MM174 Limb Malformation: Sequencing Panel Limb Malformations MD174 Limb Malformation: Deletion/Duplication Panel Limb Malformations XM060 TAR Syndrome: Sequencing and 1q21.1 Deletion/Duplication Panel Limb Malformations MM460 Cornelia de Lange syndrome (CdLS): Sequencing Panel Limb Malformations MD460 Cornelia de Lange syndrome (CdLS): Deletion/Duplication Panel Osteogenesis Imperfecta MM173 Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Osteogenesis Imperfecta MD173 Osteogenesis Imperfecta and Decreased Bone Density: Deletion/Duplication Panel Skeletal Dysplasia MSLAP Hypophosphatasia: ALPL Gene Sequencing Skeletal Dysplasia DSLAP Hypophosphatasia: ALPL Deletion/Duplication Skeletal Dysplasia MM100 Multiple Epiphyseal Dysplasia: Sequencing Panel Skeletal Dysplasia MD100 Multiple Epiphyseal Dysplasia: Deletion/Duplication Panel Skeletal Dysplasia MM610 Rhizomelic Chondrodysplasia Punctata: Sequencing Panel Skeletal Dysplasia SSHOX SHOX-related Haploinsuffi ciency Disorders: SHOX Gene Sequencing Skeletal Dysplasia MM170 Skeletal Dysplasia: Sequencing Panel Skeletal Dysplasia MD170 Skeletal Dysplasia: Deletion/Duplication Panel

2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447 SKELETAL DISEASE TEST CODE TEST NAME Skeletal Dysplasia MM172 Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Skeletal Dysplasia MD172 Skeletal Dysplasia With Increased Bone Density: Deletion/Duplication Panel Stickler Syndrome MM236 Stickler Syndrome: Sequencing Panel Stickler Syndrome MD236 Stickler Syndrome: Deletion/Duplication Panel

OVERGROWTH DISEASE TEST CODE TEST NAME Overgrowth Syndromes MM260 Macrocephaly and Overgrowth Syndromes: Sequencing and Beckwith-Wiedemann Syndrome Methylation Panel Overgrowth Syndromes MM261 Macrocephaly and Overgrowth Syndromes: Sequencing Panel Overgrowth Syndromes MD260 Macrocephaly and Overgrowth Syndromes: Deletion/Duplication Panel Overgrowth Syndromes BW Beckwith-Wiedemann Syndrome: H19 and LIT1 Methylation Panel Overgrowth Syndromes ZP Beckwith-Wiedemann Syndrome: H19 Methylation Overgrowth Syndromes BL Beckwith-Wiedemann Syndrome: LIT1 Methylation

IMMUNOLOGICAL DISORDERS DISEASE TEST CODE TEST NAME Hemolytic Anemia JT Glucose-6-Phosphate Dehydrogenase (G6PD) Defi ciency: G6PD Gene Deletion/Duplication Hemolytic Anemia JS Glucose-6-Phosphate Dehydrogenase (G6PD) Defi ciency: G6PD Gene Sequencing Immune Defi ciency MM640 Hemophagocytic Lymphohistiocytosis: Sequencing Panel Immune Defi ciency MM370 Hyper IgE Syndromes: Sequencing Panel Immune Defi ciency MD370 Hyper IgE Syndromes: Deletion/Duplication Panel Immune Defi ciency MM450 Severe Combined Immunodefi ciency (SCID) B+/B-: Sequencing Panel Immune Defi ciency MD450 Severe Combined Immunodefi ciency (SCID) B+/B-: Deletion/Duplication Panel Immune Defi ciency MM320 Severe Combined Immunodefi ciency (SCID) B+: Sequencing Panel Immune Defi ciency MD320 Severe Combined Immunodefi ciency (SCID) B+: Deletion/Duplication Panel Immune Defi ciency MM330 Severe Combined Immunodefi ciency (SCID) B-: Sequencing Panel Immune Defi ciency MD330 Severe Combined Immunodefi ciency (SCID) B-: Deletion/Duplication Panel

2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447