Knowledge is power. Plan ahead with GeneAware.

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Dulcie Cole
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1 MATERNAL FETAL Many patients may have questions regarding specific genetic disorders that may arise when planning or expecting a baby. That s why Baylor Genetics developed GeneAware, a reproductive carrier screen that gives your patient the information needed to make important family planning decisions. GENEAWARE Reproductive arrier creen Knowledge is power. Plan ahead with GeneAware.

2 Gain the knowledge needed to provide your patients empowered family planning decisions. GeneAware is a reproductive carrier screen that analyzes small amounts of your patient's blood or saliva to reveal a world of medical knowledge that is beneficial for their family. Individuals and couples of reproductive age can have GeneAware testing to identify potential risks of having a child with a genetic condition. We all have 23 pairs of chromosomes. One pair of chromosomes determines our sex. The other 22 pairs of chromosomes are non-sex chromosomes and contain the rest of our genetic information. Every person has two copies of each gene in their body. Genes act like our body s instruction manual. Genes tell our cells what type of cell to be and what to do. Below you will see the illustration of how DNA, genes, and chromosomes relate to each other in the coding of genetic information. DNA A LONG MOLEULE THAT ENODE OUR GENETI INFORMATION. HROMOOME A TRUTURE FOUND IN MOT LIVING ELL THAT ARRY GENETI INFORMATION IN THE FORM OF GENE. GENE EAH HROMOOME I MADE UP OF MANY GENE. EAH GENE, IN TURN, I OMPRIED OF A REGION OF DNA.

Quick Facts 150+ GENE GeneAware screens for diseasecausing variants in over 150 genes by full gene sequencing Four GeneAware Panel Options AMG & AOG DIORDER

3 Quick Facts 150+ GENE GeneAware screens for diseasecausing variants in over 150 genes by full gene sequencing Four GeneAware Panel Options AMG & AOG DIORDER REOMMENDED BY THE AMG & AOG AHKENAZI JEWIH DIORDER PEIFI FOR INDIVIDUAL OF AHKENAZI JEWIH DEENT BAI THE MOT OMMONLY REQUETED DIORDER OMPLETE THE MOT OMPREHENIVE REENING

cientists can study a person s genes and identify changes in those genes. ome changes, known as pathogenic variants, are severe and cause genetic disorders.

4 cientists can study a person s genes and identify changes in those genes. ome changes, known as pathogenic variants, are severe and cause genetic disorders. Many of these genetic changes are inherited. For the majority of conditions tested in GeneAware, both copies of the gene need to have a gene change to cause disease. Therefore, a person who has a gene change in one copy of the gene is a carrier and most likely does not have any symptoms of the disease. Below is an illustration of how a genetic condition can be inherited by the children of carrier parents. When a mother or a father is a carrier, they could pass on the gene change to any of their children. Their children would only be at risk of having symptoms of the condition if both parents are carriers of the same condition. If both parents are carriers of the same genetic condition, the chances of passing on the gene change to their children are: 1 IN 2 HANE THAT A HILD WILL INHERIT A NORMAL GENE FROM ONE PARENT AND THE GENE HANGE FROM THE OTHER PARENT AND WILL BE A ARRIER OF THE GENETI ONDITION. 50% 1 IN 4 HANE THAT A HILD WILL INHERIT THE NORMAL GENE FROM BOTH MOM AND DAD AND WILL NEITHER BE A ARRIER OF THE GENETI ONDITION NOR BE AFFETED BY THE ONDITION. 25% 1 IN 4 HANE THAT A HILD WILL INHERIT THE GENE HANGE, FROM BOTH MOM AND DAD, AND WILL BE AFFETED BY THE ONDITION. 25% If a woman is a carrier of an X-linked condition, each later child is at increased risk for this condition (50% risk of inheriting the gene change).

5 Understanding the Results Test odes Female omplete Positive (arrier) One or more condition-causing gene change(s) was detected in the genes included in GeneAware. If your partner was not tested he or she should be tested to determine carrier status Female Ashkenazi Jewish Female AMG & AOG Female Basic Male omplete Negative No known condition-causing gene change was detected in the genes included in GeneAware Male Ashkenazi Jewish Male AMG & AOG Male Basic How it Works Order appropriate testing for your patient. The patient's sample is collected. 1 2 Results are sent to the physician. The patient's sample is sent to Baylor Genetics. 4 3 Discuss the results with the patient. More questions? Please contact us by calling

40 YEAR OF INNOVATION 4 MILLION+ LINIAL TET PERFORMED 1 MILLION+ FAMILIE HELPED 3 THOUAND+ TET OFFERED 1 MIION IMPROVE HEALTHARE THROUGH GENETI Baylor Genetics pioneered the history of genetic

6 40 YEAR OF INNOVATION 4 MILLION+ LINIAL TET PERFORMED 1 MILLION+ FAMILIE HELPED 3 THOUAND+ TET OFFERED 1 MIION IMPROVE HEALTHARE THROUGH GENETI Baylor Genetics pioneered the history of genetic testing. Now, we re leading the way in precision medicine. Baylor Genetics is a joint venture of Miraca Holdings, Inc. and Baylor ollege of Medicine, including the #1NIH funded Department of Molecular and Human Genetics. A pioneer of precision medicine for nearly 40 years, Baylor Genetics now offers a full spectrum of clinically relevant genetic testing, access to world-renowned experts, and the confidence to provide patients with the best care BAYLORGENETI.OM

7 GeneAware Genes List

8 GeneAware Reproductive arrier creen GeneAware is a reproductive carrier screen that detects disease-causing variants in over 150 genes by full gene sequencing, supplemented with copy number analysis for genes with frequent deletions and Fragile X triplet repeat analysis. These pathogenic variants are associated with serious disorders such as Duchenne muscular dystrophy, alpha-thalassemia, and MEP2 duplication syndrome, which may not be routinely included in other carrier testing panels. The risk for carrying certain genetic conditions varies from patient to patient based on several factors. Because of this diversity, we offer four different GeneAware panels to better meet the needs of your patients. All individuals are screened for cystic fibrosis and spinal muscular atrophy in all four panel options. Females are screened for X-linked Duchenne and Becker muscular dystrophies and Fragile-X syndrome in all four panel options. AMG AND AOG AHKENAZI JEWIH BAI OMPLETE Disorders recommended for screening by the AMG and AOG Disorders specific for individuals of Ashkenazi Jewish descent The most commonly requested disorders The most comprehensive screening KEY opy number analysis Full equencing Analysis MA ilent arrier Analysis GG GG Repeat Analysis * Females Only AMG AND AOG Alpha-Thalassemia (HBA1 and HBA2) Fanconi Anemia (FAN) Beta-Hemoglobinopathies (Beta-Thalassemia and ickle ell Disease, HBB) Fragile-X yndrome (FMR1) * GG Bloom yndrome (BLM) Gaucher Disease (GBA) anavan Disease (APA) Mucolipidosis IV (MOLN1) ystic Fibrosis (FTR) Niemann-Pick Disease, Type A (MPD1) Duchenne/Becker Muscular Dystrophy (DMD) * pinal Muscular Atrophy (MN1) Familial Dysautonomia (IKBKAP) Tay-achs Disease (HEXA)

9 BAI Alpha-Thalassemia (HBA1 and HBA2) Duchenne/Becker Muscular Dystrophy (DMD) * Beta-Hemoglobinopathies (Beta-Thalassemia and ickle ell Disease, HBB) Fragile-X yndrome (FMR1) * GG ystic Fibrosis (FTR) pinal Muscular Atrophy (MN1) AHKENAZI JEWIH 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH) Galactosemia (GALT) Abetalipoproteinaemia (MTTP) Gaucher Disease (GBA) Alport yndrome (OL4A3) Glycogen torage Disease: Type IA (G6P) Arthrogryposis, Mental Retardataion and eizures (L35A3) Joubert yndrome, TMEM216 Related (TMEM216) Autosomal Recessive Polycystic Kidney Disease (PKHD1) Maple yrup Urine Disease: Type 1B (BKDHB) Bardet-Biedl yndrome: BB2 Related (BB2) Mucolipidosis IV (MOLN1) Bloom yndrome (BLM) Multiple ulphatase Deficiency (UMF1) anavan Disease (APA) Nemaline Myopathy: NEB Related (NEB) arnitine Palmitoyltransferase II Deficiency (PT2) Niemann-Pick Disease, Type A (MPD1) ongenital Amegakaryocytic Thrombocytopenia (MPL) Retinitis Pigmentosa, Autosomal Recessive (DHDD) ongenital Disorder of Glycosylation: Type 1A: PMM2 Related (PMM2) ystic Fibrosis (FTR) Dihydrolipoamide Dehydrogenase Deficiency (DLD) Duchenne/Becker Muscular Dystrophy (DMD) * Dyskeratosis ongenita (RTEL1) Ehlers-Danlos yndrome VIIc (ADAMT2) Familial Dysautonomia (IKBKAP) Familial Hyperinsulinism (AB8) mith-lemli-opitz yndrome (DHR7) pinal Muscular Atrophy (MN1) Tay-achs Disease (HEXA) Tyrosinemia: Type I (FAH) Usher yndrome: Type 1F (PDH15) Usher yndrome: Type 3A (LRN1) Wilson Disease (ATP7B) Zellweger pectrum Disorders: PEX2 Related (PEX2) Fanconi Anemia (FAN) Fragile-X yndrome (FMR1) * GG Fukuyama ongenital Muscular Dystrophy/Walker-Warburg ongenital Muscular Dystrophy (FKTN)

10 OMPLETE 3-Hydroxy-3-Methylglutaryl oa Lyase Deficiency (HMGL) 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH) Abetalipoproteinaemia (MTTP) Adenosine Deaminase Deficiency (ADA) Adrenoleukodystrophy (ABD1) * Agammaglobulinemia, X-linked 1 (BTK) * Alpha-1-Antitrypsin Deficiency (ERPINA1) Alpha-Mannosidosis (MAN2B1) Alpha-Thalassemia (HBA1 and HBA2) Alport yndrome (OL4A3) Angelman yndrome (UBE3A) Argininosuccinate Lyase Deficiency (AL) Arthrogryposis, Mental Retardataion and eizures (L35A3) Aspartylglucosaminuria (AGA) Ataxia with Vitamin E Deficiency (TTPA) Ataxia-Telangiectasia (ATM) Atelosteogenesis Type 2 (L26A2) Autosomal Recessive ongenital Ichthyosis, TGM1 Related (TGM1) Autosomal Recessive Polycystic Kidney Disease (PKHD1) Autosomal Recessive pastic Ataxia of harlevoix-aguenay (A) Bardet-Biedl yndrome: BB1 Related (BB1) Bardet-Biedl yndrome: BB10 Related (BB10) Bardet-Biedl yndrome: BB2 Related (BB2) Beta-Hemoglobinopathies (Beta-Thalassemia and ickle ell Disease, HBB) BH4-Deficient Hyperphenylalaninemia A (PT) Biotinidase Deficiency (BTD) Bloom yndrome (BLM) anavan Disease (APA) arnitine Deficiency, ystemic Primary (L22A5) arnitine Palmitoyltransferase IA Deficiency (PT1A) arnitine Palmitoyltransferase II Deficiency (PT2) artilage-hair Hypoplasia (RMRP) erebrotendinous Xanthomatosis (YP27A1) hronic Granulomatous Disease, X-linked (YBB) * itrin Deficiency (L25A13) itrullinemia Type 1 (A1) ongenital Amegakaryocytic Thrombocytopenia (MPL) ongenital Disorder of Glycosylation: Type 1A: PMM2 Related (PMM2) ongenital Disorder of Glycosylation: Type 1B: MPI Related (MPI) ongenital Myasthenic yndrome, HAT Related (HAT) ongenital Myasthenic yndrome, HRNE Related (HRNE) ongenital Myasthenic yndrome, DOK7 Related (DOK7 ) ongenital Myasthenic yndrome, RAPN Related (RAPN) rigler-najjar yndrome (UGT1A1) ystic Fibrosis (FTR) ystinosis (TN) D-Bifunctional Protein Deficiency (HD17B4) Dihydrolipoamide Dehydrogenase Deficiency (DLD) Dihydropyrimidine Dehydrogenase Deficiency (DPYD) Duchenne/Becker Muscular Dystrophy (DMD) * Dyskeratosis ongenita (RTEL1) Ehlers-Danlos yndrome VIIc (ADAMT2) Ethylmalonic Encephalopathy (ETHE1) Familial Dysautonomia (IKBKAP) Familial Hyperinsulinism (AB8) Fanconi Anemia (FAN) Fragile-X yndrome (FMR1) * Fukuyama ongenital Muscular Dystrophy/Walker- Warburg ongenital Muscular Dystrophy (FKTN) Fumarase Hydratase Deficiency (FH) GG Galactosemia (GALT) Gaucher Disease (GBA) Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) * Glutaric Acidemia I (GDH) Glycine Encephalopathy (AMT) Glycine Encephalopathy (GLD) Glycogen torage Disease: Type IA (G6P) Glycogen torage Disease: Type IB (L37A4) Glycogen torage Disease: Type II (Pompe Disease) (GAA) Glycogen torage Disease: Type III (AGL) GM1-Gangliosidosis (GLB1) GRAILE yndrome (B1L) Hereditary Fructose Intolerance (ALDOB) Hereditary Motor and ensory Neuropathy with Agenesis of the orpus allosum (L12A6) Herlitz Junctional Epidermolysis Bullosa: LAMA3 Related (LAMA3) Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related (LAMB3) Herlitz Junctional Epidermolysis Bullosa: LAM2 Related (LAM2) Hermansky-Pudlak yndrome: HP3 Related (HP3) Homocystinuria aused by ystathionine Beta-ynthase Deficiency (B) Hyperornithinemia-Hyperammonemia- Homocitrullinuria (HHH) yndrome (L25A15) Hypophosphatasia (ALPL) Inclusion Body Myopathy: Type 2 (GNE) Infantile Neuroaxonal Dystrophy 1 (PLA2G6) Isovaleric Acidemia (IVD)

11 OMPLETE Joubert yndrome, TMEM216 Related (TMEM216) Juvenile Nephronopthisis (NPHP1) Krabbe Disease (GAL) Leigh yndrome: French-anadian Type (LRPPR) Leukoencephalopathy with Vanishing White Matter, EIF2B5 Related (EIF2B5) Limb-Girdle Muscular Dystrophy, Type 2A (APN3) Limb-Girdle Muscular Dystrophy, Type 2 (GG) Limb-Girdle Muscular Dystrophy, Type 2D (GA) Limb-Girdle Muscular Dystrophy, Type 2E (GB) Long hain 3-Hydroxyacyl-oA Dehydrogenase Deficiency (HADHA) Lowe yndrome (ORL) * Lysinuric Protein Intolerance (L7A7) Maple yrup Urine Disease: Type 1A (BKDHA) Maple yrup Urine Disease: Type 1B (BKDHB) Maple yrup Urine Disease: Type II (DBT) MEP2 Duplication yndrome (MEP2) * Medium hain Acyl-oA Dehydrogenase Deficiency (AADM) Megalencephalic Leukoencephalopathy with ubcortical ysts, ML1 Related (ML1) Metachromatic Leukodystrophy (ARA) Methylmalonic Aciduria and Homocystinuria: Type cbl (MMAH) Mucolipidosis II (GNPTAB) Mucolipidosis IV (MOLN1) Mucopolysaccharidosis, Type I (IDUA) Mucopolysaccharidosis, Type IIIA (anfilippo yndrome A) (GH) Nonsyndromic Hearing Loss and Deafness: GJB2 Related DFNB1 (GJB2) Nonsyndromic Hearing Loss and Deafness: GJB6 Related DFNB1 (GJB6) Ornithine Transcarbamylase Deficiency (OT) * Pendred yndrome (L26A4) Phenylalanine Hydroxylase Deficiency (PAH) POLG-Related Disorders (POLG) Primary ongenital Glaucoma (YP1B1 ) Primary Hyperoxaluria: Type 1 (AGXT) Primary Hyperoxaluria: Type 2 (GRHPR) PROP1-Related ombined Pituitary Hormone Deficiency (PROP1) Propionic Acidemia, PA Related (PA) Propionic Acidemia, PB Related (PB) Pycnodysostosis (TK) Pyruvate arboxylase Deficiency (P) Retinitis Pigmentosa, Autosomal Recessive (DHDD) Rhizomelic hondrodysplasia Punctata: Type I (PEX7) alla Disease (L17A5) andhoff Disease (HEXB) evere ombined Immunodeficiency, Athabascan Type (DLRE1) evere ombined Immunodeficiency, X-linked (IL2RG) * jogren-larsson yndrome (ALDH3A2) mith-lemli-opitz yndrome (DHR7) pinal Muscular Atrophy (MN1) Tay-achs Disease (HEXA) Multiple ulphatase Deficiency (UMF1) Tyrosine Hydroxylase Deficiency (TH) Muscle-Eye-Brain Disease (POMGNT1) Tyrosinemia: Type I (FAH) Nemaline Myopathy: NEB Related (NEB) Usher yndrome: Type 1B (MYO7A) Nephrotic yndrome: Type 1 (NPH1) Usher yndrome: Type 1 (UH1) Nephrotic yndrome: Type 2 (NPH2) Neuronal eroid Lipofuscinosis, LN3 Related (LN3) Neuronal eroid Lipofuscinosis, LN5 Related (LN5) Neuronal eroid Lipofuscinosis, LN6 Related (LN6) Neuronal eroid Lipofuscinosis, LN8 Related (LN8) Neuronal eroid Lipofuscinosis, PPT1 Related (PPT1) Usher yndrome: Type 1D (DH23) Usher yndrome: Type 1F (PDH15) Usher yndrome: Type 2A (UH2A) Usher yndrome: Type 3A (LRN1) Very Long-hain Acyl-oA Dehydrogenase Deficiency (AADVL) Neuronal eroid Lipofuscinosis, TPP1 Related (TPP1) Wilson Disease (ATP7B) Niemann-Pick Disease, Type A (MPD1) Wiskott-Aldrich yndrome (WA) Niemann-Pick Disease, Type (NP1) Zellweger pectrum Disorders: PEX1 Related (PEX1) Nijmegen Breakage yndrome (NBN) Zellweger pectrum Disorders: PEX2 Related (PEX2)

BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.

BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING. The Inheritest SM Carrier Screen provides relevant genetic screening for many inherited diseases found throughout the pan-ethnic US population.