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Informed Consent (Global Panel)
Disorders Tested – Global Panel
17-alpha-hydroxylase deficiency Dystrophic epidermolysis bullosa, autosomal recessive Methylmalonic aciduria, MUT-related
17-beta-hydroxysteroid dehydrogenase deficiency, type III Early onset myopathy with fatal cardiomyopathy Mitochondrial complex IV deficiency
3-beta-hydroxysteroid dehydrogenase deficiency, type II Ehlers Danlos syndrome, type VIIC Mitochondrial myopathy and sideroblastic anemia I
3-hydroxy-3-methylglutaryl CoA lyase deficiency Emery-Dreifuss muscular dystrophy (X-linked) Mucolipidosis, type II/III alpha/beta
3-methylglutaconic aciduria, type III Enhanced S-cone syndrome Mucolipidosis, type IV
3-phosphoglycerate dehydrogenase deficiency Ethylmalonic encephalopathy Mucopolysaccharidosis, type I (Hurler syndrome)
Abetalipoproteinemia Fabry disease (X-linked) Mucopolysaccharidosis, type II (Hunter syndrome) (X-linked)
Achalasia-addisonianism-alacrima syndrome Familial dysautonomia Mucopolysaccharidosis, type IIIC
Achromatopsia, CNGA3-related Familial hyperinsulinism, ABCC8-related Mucopolysaccharidosis, type VI
Achromatopsia, CNGB3-related Familial hyperinsulinism, KCNJ11-related Mulibrey nanism
Acrodermatitis enteropathica Familial Mediterranean fever Multiple sulfatase deficiency
Adenosine deaminase deficiency Fanconi anemia, type A Muscle-eye-brain disease
Adrenoleukodystrophy (X-linked) Fanconi anemia, type C Myotubular myopathy, MTM1-related (X-linked)
Aicardi-Goutieres syndrome, RNASEH2C-related Fetal akinesia deformation sequence, DOK7-related Nemaline myopathy 2
Aicardi-Goutieres syndrome, SAMHD1-related Fragile X syndrome (X-linked) Nephrotic syndrome, type I
Aicardi-Goutieres syndrome, TREX1-related Fumarase deficiency Neuronal ceroid lipofuscinosis, CLN5-related
Alkaptonuria Galactokinase deficiency Neuronal ceroid lipofuscinosis, CLN6-related
Alpha-mannosidosis Galactosemia Neuronal ceroid lipofuscinosis, CLN8-related
Alpha-thalassemia Gaucher disease Neuronal ceroid-lipofuscinosis, MFSD8-related
Alport syndrome, autosomal recessive Geroderma osteodysplastica Neuronal ceroid lipofuscinosis, PPT1-related
Alport syndrome, X-linked Gitelman syndrome Neuronal ceroid lipofuscinosis, TPP1-related
Amish infantile epilepsy syndrome Glucose-6-phosphate dehydrogenase deficiency (X-linked) Niemann-Pick disease, type A and B
Andermann syndrome Glutaric acidemia, type I Niemann-pick disease, type CI
Argininosuccinic aciduria Glycine encephalopathy, AMT-related Niemann-pick disease, type CII
Aromatase deficiency Glycine encephalopathy, GLDC-related Nijmegen breakage syndrome
Arthrogryposis, mental retardation and seizures Glycogen storage disease, type lA Nonsyndromic hearing loss, GJB2-related
Arts syndrome (X-linked) Glycogen storage disease, type IB Omenn syndrome
Aspartylglycosaminuria Glycogen storage disease, type II Ornithine transcarbamylase deficiency (X-linked)
Ataxia neuropathy spectrum Glycogen storage disease, type III Ornithine translocase deficiency
Ataxia with vitamin E deficiency Glycogen storage disease, type IV Pendred syndrome
Ataxia-telangiectasia Glycogen storage disease, type V Phenylalanine hydroxylase deficiency
Ataxia-telangiectasia-like disorder Glycogen storage disease, type VII Pontocerebellar hypoplasia, type IA
Autoimmune polyglandular syndrome, type I GM1-gangliosidosis Primary congenital glaucoma
Autosomal recessive polycystic kidney disease GRACILE syndrome Primary hyperoxaluria, type I
Bardet-Biedl syndrome, BBS1-related Guanidinoacetate methyltransferase deficiency Primary hyperoxaluria, type II
Bardet-Biedl syndrome, BBS10-related Hemoglobinopathy evaluation Progressive familial intrahepatic cholestasis, type II
Bardet-Biedl syndrome, BBS12-related Hemoglobinopathy, Hb C Prolidase deficiency
Bartter syndrome, type IV Hemoglobinopathy, Hb D Propionic acidemia, PCCA-related
Beta-ketothiolase deficiency Hemoglobinopathy, Hb E Propionic acidemia, PCCB-related
Beta-thalassemia Hemoglobinopathy, Hb O Pseudoxanthoma elasticum
Bilateral frontoparietal polymicrogyria Hemoglobinopathy, Sickle cell anemia (Hb S) Pycnodysostosis
Biotinidase deficiency Hemophilia A (X-linked) Pyruvate dehydrogenase deficiency, autosomal recessive
Bloom syndrome Hemophilia B (X-linked) Pyruvate dehydrogenase deficiency, X-Linked
Canavan disease Hepatocerebral mitochondrial DNA depletion syndrome, MPV17-related Retinitis pigmentosa 59
Carnitine palmitoyltransferase I deficiency Herlitz junctional epidermolysis bullosa, LAMB3-related Rhizomelic chondrodysplasia punctata, type I
Carnitine palmitoyltransferase II deficiency Hermansky-Pudlak syndrome, type III Salla disease
Carpenter syndrome Holocarboxylase synthetase deficiency Sandhoff disease
Cartilage-hair hypoplasia Homocystinuria, CBS-related Severe combined immunodeficiency, RAG1-related
Charcot-Marie-Tooth disease, GJB1-related (X-linked) Hyperphosphatemic familial tumoral calcinosis Severe combined immunodeficiency, X-linked
Charcot-Marie-Tooth disease, PRPS1-related (X-linked) Hypohidrotic ectodermal dysplasia Short-chain acyl-CoA dehydrogenase deficiency
Chediak-Higashi syndrome Hypophosphatasia, autosomal recessive Shwachman-Diamond syndrome
Cholesteryl ester storage disease Isovaleric acidemia Sjögren-Larsson syndrome
Choroideremia (X-linked) Joubert syndrome 2 Smith-Lemli-Opitz syndrome
Citrullinemia, type I Juvenile retinoschisis, X-linked Spastic ataxia of Charlevoix-Saguenay, autosomal recessive
Congenital adrenal hyperplasia Krabbe disease Spinal muscular atrophy
Congenital amegakaryocytic thrombocytopenia Leber congenital amaurosis, LCA5-related Steroid-resistant nephrotic syndrome
Congenital disorder of glycosylation, type IA Leber congenital amaurosis, RDH12-related Stuve-Wiedemann syndrome
Congenital disorder of glycosylation, type IB Leigh syndrome, French Canadian Sulfate transporter-related osteochondrodysplasia
Congenital lipoid adrenal hyperplasia Limb-girdle muscular dystrophy, type 2A Tay-Sachs disease
Congenital neutropenia, autosomal recessive Limb-girdle muscular dystrophy, type 2D Tumoral calcinosis, normophosphatemic
Corneal dystrophy and perceptive deafness syndrome Limb-girdle muscular dystrophy, type 2E Tyrosinemia, type I
Corticosterone methyloxidase deficiency Limb-girdle muscular dystrophy, type 2I Usher syndrome, type IB
Creatine transporter defect, SLC6A8-related (X-linked) Lipoprotein lipase deficiency Usher syndrome, type IC
Crigler-Najjar syndrome Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Usher syndrome, type ID
Cystic fibrosis (600 mutations) Luteinizing hormone resistance Usher syndrome, type IF
Cystinosis Maple syrup urine disease, type IA Usher syndrome, type III
D-bifunctional protein deficiency Maple syrup urine disease, type IB Very-long chain acyl-CoA dehydrogenase deficiency
Desbuquois dysplasia, type I Medium-chain acyl-CoA dehydrogenase deficiency Vitamin D-dependent rickets, type I
Dihydrolipoamide dehydrogenase deficiency MEDNIK syndrome Walker-Warburg syndrome
Dihydropyrimidine dehydrogenase deficiency Metachromatic leukodystrophy Wilson disease
Du Pan syndrome Methylmalonic aciduria, cblA type Zellweger syndrome spectrum, PEX6-related
Dyskeratosis congenita, autosomal recessive Methylmalonic aciduria, cblB type
Dyskeratosis congenita, X-linked Methylmalonic aciduria, cblC type
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