QIAseq Expanded Carrier Screening Panel Conditions tested

11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia 21- Duchenne/Becker Muscular Dystrophy hydroxylase-deficient Congenital Adrenal Hyperplasia 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Ehlers-Danlos Syndrome 3-Methylcrotonyl-CoA carboxylase deficiency Ellis-van Creveld syndome (Weyers Acrofacial Dysostosis) 3-Phosphoglycerate Dehydrogenase Deficiency ERCC6-related Disorders 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency ERCC8-related Disorders Abetalipoproteinemia Ethylmalonic Encephalopathy Achondrogenesis, Type 1B EVC2-related Ellis-van Creveld Syndrome Alpha-Mannosidosis Familial Hyperinsulinism Alpha-Thalassemia Familial Dysautonomia Familial Mediterranean Fever Alstrom Syndrome Fanconi Anemia Andermann Syndrome Argininemia Galactokinase Deficiency Argininosuccinic aciduria Galactosemia Aspartylglycosaminuria Gaucher Disease Ataxia With Vitamin E Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency Ataxia-Telangiectasia Glutaryl-CoA Dehydrogenase Deficiency Autism Spectrum, Epilepsy and Arthrogryposis Glycine Encephalopathy Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Bardet- Glycogen Storage Disease, Type 2 (Pompe Disease) Biedl Syndrome GRACILE Syndrome Batten Disease (Neuronal Ceroid Lipofuscinosis,) Guanidinoacetate Methyltransferase Deficiency Hereditary Beta-Hemoglobinopathies (includes Sickle Cell Disease) Fructose Intolerance Biotinidase Deficiency Herlitz Junctional Holocarboxylase Synthetase Deficiency Canavan Disease Homocystinuria Carbamoyl Phosphate Synthetase I Deficiency Hydrolethalus Syndrome Carnitine Deficiency Hyperinsulinemic Hypoglycemia Carnitine Palmitoyltransferase IA Deficiency Hypophosphatasia, Autosomal Recessive Carnitine Palmitoyltransferase II Deficiency Inclusion Body Myopathy 2 Cartilage-Hair Hypoplasia Isovaleric Acidemia Cerebrotendinous Xanthomatosis Joubert Syndrome 2 Citrullinemia, Type I Junctional Epidermolysis Bullosa Cohen Syndrome Ketothiolase Deficiency Combined Pituitary Hormone Deficiency-2 Krabbe Disease Congenital Amegakaryocytic Thrombocytopenia LAMA2-related Muscular Dystrophy Congenital Disorder of Glycosylation, Type IB Lamellar , Type 1 Congenital Finnish Nephrosis Leigh Syndrome, French-Canadian Type Costeff Disease Optic Atrophy Limb Girdle Muscular Dystrophy, Type 2A Lipoid Adrenal Hyperplasia Cystinosis Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency D-Bifunctional Protein Deficiency Delta-sarcoglycanopathy

Sample to Insight Maple Syrup Urine Disease Salla Disease Meckel-Gruber Syndrome, Type 1 Sandhoff Disease Medium Chain Acyl-CoA Dehydrogenase Deficiency Segawa Syndrome, Autosomal Recessive Megalencephalic Leukoencephalopathy with Subcortical Cysts Severe Combined Immunodeficiency (Adenosine Metachromatic Leukodystrophy Deaminase Deficiency) Methylmalonic Aciduria Severe combined Immunodeficiencies Mucolipidosis Short Chain Acyl-CoA Dehydrogenase Deficiency Mucopolysaccharidisis Sjogren-Larsson Syndrome Multiple Sulphatase Deficiency Smith-Lemli-Opitz Syndrome Muscle-Eye-Brain Disease Spastic Paraplegia Type 15 Myotubular Myopathy, X-linked Spinal Muscular Atrophy Nemaline Myopathy Spondylothoracic Dysostosis Neuronal Ceroid-Lipofuscinosis Steroid-Resistant Nephrotic Syndrome Niemann Pick Disease Tay-Sachs Disease Nijmegen Breakage Syndrome Trifunctional protein deficiency Non-syndromic Hearing Loss Tyrosinemia Type II Occipital Horn Syndrome Tyrosinemia, Type I Omenn Syndrome Usher Syndrome Ornithine Transcarbamylase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency Osteopetrosis, Infantile Malignant Walker-Warburg Syndrome Pendred Syndrome Wilson Disease Phenylketonuria Wolman Disease Polycystic Kidney Disease, Autosomal Recessive X-linked Congenital Adrenal Hypoplasia Polyglandular Autoimmune Syndrome X-Linked Juvenile Retinoschisis Primary Congenital Hypothyroidism X-linked Severe Combined Immunodeficiency Primary Hyperoxaluria Propionic Acidemia, beta subunit Zellweger Spectrum Disorders Pycnodysostosis Pyruvate Carboxylase Deficiency Rhizomelic Chondrodysplasia Punctata, Type I

QIAseq Targeted DNA Panels are intended for molecular biology applications. These products are not intended for the diagnosis, prevention, or treatment of a disease. The CLC Genomics Workbench is intended for molecular biology applications. This product is not intended for the diagnosis, prevention, or treatment of a disease. QIAGEN Clinical Insight (QCI) Interpret is for Research Use Only. Not for use in diagnostic procedures.

Trademarks: QIAGEN®, Sample to Insight®, Registered names, trademarks, etc. used in this document, even when not specifically marked as such, are not to be considered unprotected by law.©2019 QIAGEN, all rights reserved PROM-14-001 06/2019