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Informed Consent (Global Panel)

About the Test Required Information and Confidentiality


The Preparent™ Carrier Screen – Global Panel is a test that looks at We keep test results confidential. Your test results will be sent only to
your genes to determine whether you are a carrier of certain genetic the healthcare provider who ordered the test, or his/her agent, unless
disorders. A list of disorders included in this test appears on page 2. otherwise authorized by you or required by law. You may also contact
A positive result tells you with greater than 99% certainty that you are us if you would like a copy of your test results. Your healthcare provider
a carrier of a genetic disorder, and you could be at risk of having an is responsible for interpreting your test results, explaining them to you,
affected child. If a risk is identified, you may wish to consider genetic and determining the best next steps for your care. No other test will
carrier screening for your partner, consult with your healthcare provider, be performed and reported on your sample unless authorized by your
or pursue genetic counseling. If you are pregnant, prenatal testing can healthcare provider. Leftover specimens from New York State will be
be performed to find out whether your baby has inherited the genetic destroyed within 60 days.
disorder. You could also learn that you may be affected by a genetic
For the most accurate interpretation of test results, the laboratory
disorder, although this is extremely rare. In addition, results may reveal
needs to collect information about your health history. This may
clinical health implications for you which may require follow-up with
include information about your pregnancy (gestational age, number
your health care provider.
of babies), your health (height and weight, diabetes status, transplant
Limitations status), and your family history (ethnic background, any known family
history of genetic disease). This information is kept confidential.
Like all tests, this test has limitations. It is a screening test and is not
intended to diagnose genetic conditions. If a risk is identified in your Collecting information about your pregnancy after testing is part of a
pregnancy, a prenatal diagnostic test such as chorionic villus sampling laboratory’s standard practice for quality purposes, and is required in
or amniocentesis is recommended. False positive and false negative several states. The laboratory may contact your healthcare provider to
results are rare but possible. obtain this information.
This test is designed to look for specific genetic changes. It cannot Genetic Discrimination
detect all genetic changes that could cause health problems.
The U.S. government has enacted laws to protect Americans
Normal results do not guarantee a healthy pregnancy or baby.
against discrimination based on their genetic information for health
In the course of performing the test, information regarding other insurance and employment. The laws may not protect against genetic
chromosomal alterations may become evident (called Incidental discrimination in other circumstances, such as when applying for life
Findings). The laboratory does not report or comment on any Incidental insurance or long-term disability insurance. Talk to your healthcare
Findings that may be noted in the course of analyzing the test data. provider or genetic counselor if you have concerns about genetic
discrimination prior to testing.
Risks
This test is is performed on a blood draw. Side effects of having Testing is Voluntary
blood drawn are uncommon, but may include dizziness, fainting, The decision to accept or decline testing is completely yours. You may
soreness, bleeding, bruising, and, rarely, infection. wish to consult with a certified genetic counselor before consenting to
this test. Ask your healthcare provider for information about genetic
counseling resources that are available to you. You can also find a
genetic counselor through the National Society of Genetic Counselors
at www.nsgc.org.

Before signing this form, I have had the opportunity to discuss this testing with my healthcare provider or someone he/she has
designated, and genetic counseling has been recommended before and after testing. My questions have been answered and I have
all the information I need to make a decision at this time. I have decided that:

Yes, I want to receive the Preparent Carrier Screen – Global Panel.


No, I do not want testing at this time.

Patient Name (please print) Patient Signature Date

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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

5230 S. State Road, Ann Arbor, MI 48108 USA • Tel +1 855-293-2639 • progenity.com
Progenity, Inc. is a CLIA-certified clinical laboratory and is accredited by the College of American Pathologists (CAP). Tests are performed by
Progenity or by other CLIA-certified clinical laboratories contracted with Progenity. This consent form is provided by Progenity as a courtesy
and an educational service to clinicians and their patients. © 2016 Progenity, Inc. All rights reserved. Progenity® is a registered service mark
of Progenity, Inc. Preparent™ is a trademark of Progenity, Inc. WH-03007-01 REV 012017

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