CarrierMap. Genetic Counseling. Technology TABLE OF. Sample Report CONTENTS. New Offerings. Recombine Facts. Disease List

Transcription

1 Recombine

2 2 CarrierMap 4 Genetic Counseling TABLE OF CONTENTS Technology Sample Report New Offerings 18 Recombine Facts 19 Disease List

3 CARRIERMA ROVIDES COMLETE We help families have healthy children Our CarrierMap test is unique. It s the most comprehensive genetic carrier screen, designed to test over 250 genetic diseases and cover the widest range of ancestries. CARRIER SCREENING Recombine s CarrierMap screens for the most diseases to give your patients the most answers. With this increased knowledge, you and your patients can confidently make reproductive and health decisions. We guide you every step of the way Recombine offers in-depth genetic counseling sessions, detailed patient tracking for providers, and clear reports outlining reproductive risks. 250 > 250 DISEASES We advance genomics through research Our team conducts innovative research focused on improving health outcomes. Our FertilityMap study is the first of its kind to explore links between fertility and genomics < 110 DISEASES 50 0, CarrierMap Others 3 DISEASES Traditional Answers that matter: The diseases we screen have a significant impact. hysical Impairment 190+ Shortened Lifespan 125+ Cognitive Impairment *Data as per recent marketing materials. 2

4 CARRIERMA OFFERS COMLIMENTARY GD Carrier screening enables preimplantation genetic diagnosis (GD) of embryos. We perform free GD through Reprogenetics for any couple identified as having a high reproductive risk.* We are committed to guiding your patients through every step of this process. CARRIERMA INCLUDES IN-DETH GENETIC COUNSELING Recombine reaches out to all of your patients to offer in-depth genetic counseling. Our board-certified genetic counselors carefully prepare for every phone session and explain results in the context of each patient s family, fertility, and medical history. Our sessions are designed based on traditional genetic counseling and facilitate informed decision-making for each patient. Recombine Others 30+ minute traditional genetic counseling session 5-10 minutes Counseling Elements Included Traditional GC Recombine GC 3 *Exclusions apply. re-test counseling Family & medical history Education about genetics & inheritance Overview of testing performed Results explanation Risk assessment artner testing & reproductive options Consult letter 4

5 TRACK RESULTS IN OUR ONLINE ORTAL 5 6

6 THE IMORTANCE OF EXANDED SCREENING Traditional carrier screening examines only historically significant diseases. CarrierMap has taken into account emerging data from different ethnic groups to include additional diseases. We have found that many of these diseases are more prevelant than previously thought, making CarrierMap the most relevant carrier screen for today s world. Disease Carrier Rate Observed 1 Literature Literature BUILT ON THE MOST OWERFUL TECHNOLOGY Recombine s cutting-edge technology gives your patients the most detailed picture of their genetic makeup. roven: Accurate: Illumina genotyping platform used by leading labs worldwide. High disease detection rates with carefully curated mutations, including intronic, exonic, and promoter mutations. Bardet-Biedl Syndrome (BBS1-Related) 1/168 1/376 2 Gaucher Disease 1/75 1/112 3 Glycogen Storage Disease: Type II 1/72 1/97 4 Nonsyndromic Hearing Loss (GJB2-Related) 1/19 1/43 5 Dynamic: owerful: Robust ability to add new diseases and mutations based on emerging literature. Capacity to detect large insertions and deletions which are often missed by sequencing. Smith-Lemli-Opitz Syndrome 1/47 1/ Kumar, N., Rodriguez, S.A., Bisignano, A., Kellogg, G.R., Chu, B., Munne, S., Huang, A., Surrey, M. Going Beyond the Guidelines: a Call for Expanded Carrier Screening Based on an Analysis of 3,208 Clinical Samples. American Society of Reproductive Medicine, October Forsythe, E. & Beales,.L. Bardet-Biedl Syndrome. In GeneReviews. Updated February Grabowski, G.A., et al ediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. European Journal of ediatrics 163(2): Martiniuk, F., et al Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. American Journal of Medical Genetics 79(1): Smith, R.J.H. & Van Camp, G. Nonsyndromic Hearing Loss and Deafness, DFNB1. In GeneReviews. Updated January Witsch-Baumgartner, et al Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. American Journal of Human Genetics 66(2): Our technology allows for superior testing of all ACOG 1 and ACMG 2 recommended diseases. Highlights include: Diseases CarrierMap Others 3 Cystic Fibrosis > 140 mutations < 100 mutations Spinal Muscular Atrophy > 20 point mutations No point mutations Alpha Thalassemia > 90% detection Not tested Beta Thalassemia > 85 mutations < 30 mutations REFLEX SEQUENCING Recombine now offers reflex sequencing for many of our high impact diseases, which can help to further refine residual risk. To see which diseases have this option, please look for an asterisk (*) on our disease list. 7 1 American Congress of Obstetricians and Gynecologists. 2 American College of Medical Genetics and Genomics. 3 Data as per recent marketing materials. 8

7 3 Easy Steps Register & Collect Sample Lab Analysis & Results Report & Genetic Counseling 9 Your preferences matter to us. We can customize our test to seamlessly integrate with your practice. 10

8 CLEAR REORTS FOR ACTIONABLE RESULTS CarrierMap screens for the most clinically relevant and impactful genetic diseases to provide results that matter. Each disease is first meticulously selected for inclusion based on carrier rate, clinical severity and availability of treatment options, and then categorized into groups. HIGH IMACT These diseases have a significant impact on life expectancy and quality of life. MODERATE IMACT These diseases typically do not affect life expectancy, but can affect quality of life. X-LINKED These diseases are passed down by female carriers. Carriers may have symptoms. TREATMENT BENEFITS Treatment lessens disease symptoms. Newborn screening may be available for timely intervention. COMLETELY CUSTOMIZABLE Recombine provides custom test panels to meet your preferences. anels can be based on ethnicity, carrier frequency, and/or disease impact

9 INNOVATION THROUGH COMLETE CARE WITH CLINICAL RESEARCH NEW OFFERINGS We are creating an evidence-based approach to improve genetic testing. artner with us to delve into the science and delivery of genetics. The FertilityMap study FertilityMap is Recombine s first large-scale, multivariate study investigating the genetic basis of infertility, with the goal of improving pregnancy success rates. The ChromoMap prenatal screen ChromoMap is a simple screen for fetal chromosome health that avoids the risk of miscarriage from invasive testing and gives your patient valuable insight during pregnancy

10 AN INNOVATIVE STUDY OF FERTILITY GENOMICS Infertility can be emotionally, physically, and scientifically challenging. We want to work with you to revolutionize fertility care and improve pregnancy success rates. FertilityMap is our first large-scale, multivariate genomic validation study to address reproductive struggles. We are bringing together leading IVF centers to optimize fertility diagnosis and treatment. By leveraging the power of new genomic technologies, we place you and your patients at the forefront of fertility care. A OWERFUL TEST FOR RENATAL SCREENING Chromosomal abnormalities can have a significant impact on a child s health. Invasive testing has a risk of miscarriage, and ChromoMap avoids that risk. ChromoMap is a simple screen for fetal chromosome health that has been designed to give your patient valuable insights during pregnancy. It is available as early as 10 weeks after conception and requires only a single tube of maternal blood. Chromosomal abnormalities tested include Trisomy 21, Trisomy 18, Trisomy 13, Trisomy 16 1, Trisomy 9 1, Sex Aneuploidies 1, and Microdeletions 1. Collaborative Complimentary Seamless Be a part of the largest-ever fertility genomics study. articipate at no cost to you or your patients. Integrate into your practice with CarrierMap. Scientific Technological Reliable Deeper sequencing for greater and more accurate insight. Rigorously validated in scientific and clinical studies. The lowest test failure rate in the industry. Data oints Included in FertilityMap Quantity Abnormalities Screened ositive redictive Value 2 Negative redictive Value 2 Genetic Variants 600+ Trisomy Clinical Variables 50+ Trisomy Trisomy Available as optional add-ons to the traditional panel. 2 Futch T, Spinosa J, Bhatt S, de Feo E, Rava R, Sehnert AJ Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. renat Diagn. 33: Illumina and the owered by Illumina logo are trademarks of Illumina, Inc. in the U.S. and other countries. 16

11 RECOMBINE FACTS Facts About CarrierMap CarrierMap Others* Number of Diseases Number of Mutations Number of X-Linked Diseases Jewish anel Diseases Cystic Fibrosis Mutations Spinal Muscular Atrophy oint Mutations Alpha Thalassemia Detection > 250 < 110 > 2000 < 500 > 20 < 5 > 60 < 35 > 140 < 100 > 20 None > 90% Not Tested Fragile X Detection of Large Insertions/Deletions Ability to Add New Diseases Genotyping Sequencing Included Included No No Free Genetic Counseling Average GC Session 30+ Minutes 5-10 Minutes Complimentary GD No Turnaround Time for Results Cost per Disease 5-7 Days ~ 7 Days $1.38 $5.60 Sample Types Accepted Blood, Saliva & Semen Blood, Saliva 17 *Data as per recent marketing materials. 18

12 DISEASE LIST The following diseases are including in CarrierMap, with the indicated number of mutations in (parenthesis). *Disease has sequencing option. [ACOG] = Recommended by ACOG. [ACMG] = Recommended by ACMG. 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (1) 17-Alpha Hydroxylase Deficiency (17)* 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency (8) 21-Hydroxylase-Deficient Classical Congenital Adrenal Hyperplasia (8)* 21-Hydroxylase-Deficient Nonclassical Congenital Adrenal Hyperplasia (3)* 3-Beta-Hydroxysteroid Dehydrogenase Deficiency (8) 3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCA Related (2) 3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCB Related (8) 3-Methylglutaconic Aciduria: Type 3 (5) 3-hosphoglycerate Dehydrogenase Deficiency (1) 5-Alpha Reductase Deficiency (16) 6-yruvoyl-Tetrahydropterin Synthase Deficiency (6) Abetalipoproteinemia (2) Achromatopsia: CNGB3 Related (6) Acrodermatitis Enteropathica (10)* Acyl-CoA Oxidase I Deficiency (5) Adenosine Deaminase Deficiency (22)* Adrenoleukodystrophy: X-Linked (25) Alkaptonuria (14)* Alpha Thalassemia [ACOG] (17)* Alpha-1-Antitrypsin Deficiency (4) Alpha-Mannosidosis (3) Alport Syndrome: COL4A3 Related (4) Alport Syndrome: COL4A4 Related (5) Alport Syndrome: X-linked (3) Amegakaryocytic Thrombocytopenia (3)* Andermann Syndrome (5) Androgen Insensitivity Syndrome: Complete (18) Antley-Bixler Syndrome (4) Argininosuccinate Lyase Deficiency (7) Aromatase Deficiency (11) ARSACS (8) Arthrogryposis, Mental Retardation, & Seizures (AMRS) (2) Arts Syndrome (2) Aspartylglycosaminuria (8) Ataxia Neuropathy Spectrum: OLG Related (27) Ataxia with Vitamin E Deficiency (5)* Ataxia-Telangiectasia (19)* Autosomal Recessive olycystic Kidney Disease (19)* Bardet-Biedl Syndrome: BBS1 Related (3)* Bardet-Biedl Syndrome: BBS10 Related (3)* Bardet-Biedl Syndrome: BBS12 Related (5)* Bardet-Biedl Syndrome: BBS2 Related (5)* Bare Lymphocyte Syndrome: Type II (1) Bartter Syndrome: Type 4A (6) Beta Thalassemia [ACOG] (91)* Beta-Hexosaminidase seudodeficiency (4) Beta-Ketothiolase Deficiency (15)* Biotinidase Deficiency (10)* Bloom Syndrome [ACMG] (26)* Canavan Disease [ACOG/ACMG] (10)* Carnitine almitoyltransferase IA Deficiency (7) Carnitine almitoyltransferase II Deficiency (22)* Carpenter Syndrome (1) Cartilage-Hair Hypoplasia (2) Cerebrotendinous Xanthomatosis (13)* Charcot-Marie-Tooth Disease with Deafness: X-Linked: GJB1 Related (23) Charcot-Marie-Tooth Disease with Deafness: X-Linked: RS1 Related (2) Cholesteryl Ester Storage Disease (4)* Choreoacanthocytosis (1) Choroideremia (1) Chronic Granulomatous Disease: X-Linked (14) Citrullinemia: Type I (16)* Classical Galactosemia (17)* Cohen Syndrome (12) Congenital Disorder of Glycosylation: Type 1A: MM2 Related (5)* Congenital Disorder of Glycosylation: Type 1B: MI Related (1) Congenital Disorder of Glycosylation: Type 1C: ALG6 Related (4) Congenital Lipoid Adrenal Hyperplasia (11) Congenital Neutropenia: Recessive (6) Copper Transport Disorders (11) Corneal Dystrophy and erceptive Deafness (7) Corticosterone Methyloxidase Deficiency (3) Creatine Transporter Defect (8) Crigler-Najjar Syndrome (11) Cystic Fibrosis [ACOG/ACMG] (145)* Cystinosis (13)* Cystinuria (7) D-Bifunctional rotein Deficiency (7) Dihydropyrimidine Dehydrogenase Deficiency (3) Du an Syndrome (5) Dystrophic Epidermolysis Bullosa: Recessive (13)* Ehlers-Danlos Syndrome: Type VIIC (2) Ellis-van Creveld Syndrome (3) Emery-Dreifuss Myopathy: X-Linked (3) Enhanced S-Cone (1) Ethylmalonic Aciduria (4) Fabry s Disease (23) Factor IX Deficiency (7) Factor VIII Deficiency (34) Familial Dysautonomia [ACOG/ACMG] (4)* Familial Hyperinsulinism: Type 1: ABCC8 Related (10)* Familial Hyperinsulinism: Type 2: KCNJ11 Related (6)* Familial Mediterranean Fever (11)* Familial Mediterranean Fever: Mild Form (3)* Fanconi Anemia: Type A (1) Fanconi Anemia: Type C [ACMG] (8)* Fanconi Anemia: Type G (4) Fanconi Anemia: Type J (1) Fragile X Syndrome (1) Fumarase Deficiency (1) Galactokinase Deficiency (7) Gaucher Disease [ACMG] (9)* Gitelman Syndrome (9) Globoid Cell Leukodystrophy (10)* Glucose-6-hosphate Dehydrogenase Deficiency (8) Glutaric Acidemia: Type I (4) Glycine Encephalopathy: AMT Related (6) Glycine Encephalopathy: GLDC Related (5) Glycogen Storage Disease: Type IA (12)* Glycogen Storage Disease: Type IB (5) Glycogen Storage Disease: Type II (15)* Glycogen Storage Disease: Type III (14) Glycogen Storage Disease: Type IV (1) Glycogen Storage Disease: Type V (9) Glycogen Storage Disease: Type VII (3) GM1-Gangliosidoses (17)* GRACILE Syndrome (12) Guanidinoacetate Methyltransferase Deficiency (5) Hemochromatosis: Type 2A: HFE2 Related (1) Hemochromatosis: Type 3: TFR2 Related (5) Hemoglobinopathy: Hb C [ACOG] (1) Hemoglobinopathy: Hb D [ACOG] (1) Hemoglobinopathy: Hb E [ACOG] (1) Hemoglobinopathy: Hb O [ACOG] (1) Hereditary Fructose Intolerance (10)* Herlitz Junctional Epidermolysis Bullosa: LAMA3 Related (1) Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related (5) Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related (1) Hermansky udlak Syndrome: Type 1 (1) Hermansky-udlak Syndrome: Type 3 (5) HMG-CoA Lyase Deficiency (6) Holocarboxylase Synthetase Deficiency (8) Homocystinuria Caused by CBS Deficiency (7) Hunter Syndrome (7) Hurler Syndrome (6)* Hypohidrotic Ectodermal Dysplasia: X-Linked (5) Hypophosphatasia (5) Inclusion Body Myopathy: Type 2 (3)* Isovaleric Acidemia (1) Joubert Syndrome (1)* Juvenile Retinoschisis: X-Linked (12) Lamellar Ichthyosis: Type 1 (1) Laryngoonychocutaneous Syndrome (1) Leber Congenital Amaurosis: CE290 Related (1) Leber Congenital Amaurosis: GUCY2D Related (4) Leber Congenital Amaurosis: LCA5 Related (3) Leber Congenital Amaurosis: RDH12 Related (9) Leigh Syndrome: French-Canadian (1) Leydig Cell Hypoplasia (13) Limb-Girdle Muscular Dystrophy: Type 2A (7) Limb-Girdle Muscular Dystrophy: Type 2B (2) Limb-Girdle Muscular Dystrophy: Type 2C (5) Limb-Girdle Muscular Dystrophy: Type 2D (1)* Limb-Girdle Muscular Dystrophy: Type 2E (6)* Limb-Girdle Muscular Dystrophy: Type 2F (5) Limb-Girdle Muscular Dystrophy: Type 2I (1)* Lipoprotein Lipase Deficiency (1) Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (2) Lysinuric rotein Intolerance (4) Maple Syrup Urine Disease: Type 1A (5)* Maple Syrup Urine Disease: Type 1B (6)* Maple Syrup Urine Disease: Type 3 (9)* Meckel Syndrome: Type 1 (5) Medium-Chain Acyl-CoA Dehydrogenase Deficiency (8)* Megalencephalic Leukoencephalopathy (2) Metachromatic Leukodystrophy (17)* Methylmalonic Acidemia: MMAA 19 Diabetes: Recessive ermanent Neonatal (2) Type 2 (2) 20 Related (14)* Methylmalonic Acidemia: MMAB Related (11)* Methylmalonic Acidemia: MUT Related (22)* Methylmalonic Aciduria and Homocystinuria: Type cblc (5)* MTHFR Deficiency: Severe (7) Mucolipidosis: Type II/III (3)* Mucolipidosis: Type IV [ACMG] (6)* Multiple Sulfatase Deficiency (1) Muscle-Eye-Brain Disease (3) Myotubular Myopathy: X-Linked (25) Navajo Neurohepatopathy (1) Nemaline Myopathy: NEB Related (1) Nephrotic Syndrome: Type 1 (5) Nephrotic Syndrome: Type 2 (26)* Neuronal Ceroid-Lipofuscinosis: CLN3 Related (3)* Neuronal Ceroid-Lipofuscinosis: CLN5 Related (7)* Neuronal Ceroid-Lipofuscinosis: CLN6 Related (10)* Neuronal Ceroid-Lipofuscinosis: CLN8 Related (4)* Neuronal Ceroid-Lipofuscinosis: MFSD8 Related (2) Neuronal Ceroid-Lipofuscinosis: T1 Related (8) Neuronal Ceroid-Lipofuscinosis: T1 Related (9) Niemann-ick Disease: Type A [ACMG] (5)* Niemann-ick Disease: Type B (2)* Niemann-ick Disease: Type C1 (14)* Niemann-ick Disease: Type C2 (11)* Nijmegen Breakage Syndrome (8)* Non-Type I Cystinuria (14) Nonsyndromic Hearing Loss and Deafness: GJB2 Related (14)* Nonsyndromic Hearing Loss and Deafness: GJB6 Related (2) Oculocutaneous Albinism: Type 1 (10) Oculocutaneous Albinism: Type 2 (3) Oculocutaneous Albinism: Type 4 (2) Omenn Syndrome (1) Ornithine Transcarbamylase Deficiency (11) Ornithine Translocase Deficiency (4) endred Syndrome (9)* ersistent Mullerian Duct Syndrome: Type I (8) ersistent Mullerian Duct Syndrome: Type II (15) henylalanine Hydroxylase Deficiency (17)* olyglandular Autoimmune Syndrome: Type 1 (5)* rimary Hyperoxaluria: Type 1 (12)* rimary Hyperoxaluria: Type 2 (3)* rimary Hyperoxaluria: Type 3 (2)* rogressive Cerebello-Cerebral Atrophy: rogressive Familial Intrahepatic Cholestasis: Type 2 (5)* ropionic Acidemia: CCA Related (4) ropionic Acidemia: CCB Related (13) seudocholinesterase Deficiency (1) ycnodysostosis (2) yruvate Dehydrogenase Deficiency: Autosomal Recessive (2) yruvate Dehydrogenase Deficiency: X-Linked (4) Retinal Dystrophies: RLB1 Related (3) Retinitis igmentosa: Autosomal Recessive: DHDDS Related (1) Rhizomelic Chondrodysplasia unctata: Type 1 (8)* Salla Disease (5) Sandhoff Disease (3) Sanfilippo Syndrome: Type A (16) Sanfilippo Syndrome: Type B (14) Sanfilippo Syndrome: Type C (13) Sanfilippo Syndrome: Type D (6) SCID: X-Linked (12) Short-Chain Acyl-CoA Dehydrogenase Deficiency (5) Sickle-Cell Anemia [ACOG] (1) Sjogren-Larsson Syndrome (2) Smith-Lemli-Opitz Syndrome (21)* Spinal Muscular Atrophy: SMN1 Related [ACMG] (22) Stargardt Disease (21) Stuve-Wiedemann Syndrome (9) Sulfate Transporter-Related Osteochondrodysplasia (6)* Tay-Sachs Disease [ACOG/ACMG] (32)* Tyrosine Hydroxylase Deficiency (1) Tyrosinemia: Type I (11) Usher Syndrome: Type 1B (10) Usher Syndrome: Type 1C (5)* Usher Syndrome: Type 1D (14)* Usher Syndrome: Type 1F (7) Usher Syndrome: Type 2A (24)* Usher Syndrome: Type 3 (4) Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (8)* Walker-Warburg Syndrome (1)* Werner Syndrome (8) Wilson Disease (13)* Wolman Disease (6)* Zellweger Spectrum Disorders: EX1 Related (3)* Zellweger Spectrum Disorders: EX10 Related (2)* Zellweger Spectrum Disorders: EX2 Related (1) Zellweger Spectrum Disorders: EX6 Related (9)

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