Recombine

CONTENTSTABLE OF

CarrierMap2

Genetic Counseling4

Technology8

Sample Report12

New Offerings14

Recombine Facts18

Disease List19

We advance genomics through researchOur 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.

We guide you every step of the wayRecombine offers in-depth genetic counseling sessions, detailed patient tracking for providers, and clear reports outlining reproductive risks.

We help families have healthy childrenOur 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.

1

CARRIER SCREENING

250

110

CARRIERMAP PROVIDES COMPLETE

50

100

150

200

0

DISEASES

DISEASES

CarrierMap Others

,

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.

Physical Impairment

190+

*Data as per recent marketing materials.

3DISEASES

Traditional

ShortenedLifespan

125+

CognitiveImpairment

95+

Answers that matter: The diseases we screen have a significant impact.

2

250

>

<

COMPLIMENTARY PGDCARRIERMAP OFFERS

Carrier screening enables preimplantation genetic diagnosis (PGD) of embryos. We perform free PGD 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.

3

*Exclusions apply.

GENETIC COUNSELING

30+ minute traditional genetic counseling session

CARRIERMAP INCLUDES IN-DEPTH

Recombine

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.

5 - 10 minutesOthers

Counseling Elements Included Traditional GC Recombine GC

P PP P

Overview of testing performed

P PP P

Family & medical history

Education about genetics & inheritance

4

Risk assessment

PP P

Consult letter

P PP P

Partner testing & reproductive options

Results explanation P

Pre-test counseling

5

ONLINE PORTALTRACK RESULTS IN OUR

66

EXPANDED SCREENINGTHE IMPORTANCE OF

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 Observed1

Bardet-Biedl Syndrome (BBS1-Related) 1/168 1/3762

Gaucher Disease 1/75 1/1123

Glycogen Storage Disease: Type II 1/72 1/974

Nonsyndromic Hearing Loss (GJB2-Related) 1/19 1/435

Smith-Lemli-Opitz Syndrome 1/47 1/716

Literature

7

1Kumar, 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 2014. 2Forsythe, E. & Beales, P.L. Bardet-Biedl Syndrome. In GeneReviews. Updated February 2014. 3Grabowski, G.A., et al. 2004. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. European Journal of Pediatrics 163(2): 58-66. 4Martiniuk, F., et al. 1998. 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): 69-72.5Smith, R.J.H. & Van Camp, G. Nonsyndromic Hearing Loss and Deafness, DFNB1. In GeneReviews. Updated January 2014. 6Witsch-Baumgartner, et al. 2000. 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): 402-412.

Literature

POWERFUL TECHNOLOGYBUILT ON THE MOST

Recombine’s cutting-edge technology gives your patients the most detailed picture of their genetic makeup.

Illumina genotyping platform used by leading labs worldwide.

High disease detection rates with carefully curated mutations, including intronic, exonic, and promoter mutations.

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.

Proven:

Accurate:

Dynamic:

Powerful:

Our technology allows for superior testing of all ACOG1 and ACMG2 recommended diseases. Highlights include:

Diseases CarrierMap Others3

> 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

Cystic Fibrosis

REFLEX SEQUENCINGRecombine 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.

8

1American Congress of Obstetricians and Gynecologists. 2American College of Medical Genetics and Genomics. 3Data as per recent marketing materials.

Register& CollectSample

1

Lab Analysis& Results

Report & GeneticCounseling

3 Easy Steps

2 3

9

Your preferences matter to us. We can customize our test to seamlessly integrate with your practice.

10

ACTIONABLE RESULTSCLEAR REPORTS FOR

HIGH IMPACTThese diseases have a significant impact on life expectancy and quality of life.

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.

COMPLETELY CUSTOMIZABLERecombine provides custom test panels to meet your preferences. Panels can be based on ethnicity, carrier frequency, and/or disease impact.

MODERATE IMPACTThese diseases typically do not affect life expectancy, but can affect quality of life.

X-LINKEDThese diseases are passed down by female carriers. Carriers may have symptoms.

TREATMENT BENEFITSTreatment lessens disease symptoms. Newborn screening may be available for timely intervention.

11 12

CLINICAL RESEARCHINNOVATION THROUGH

We are creating an evidence-based approach to improve genetic testing. Partner with us to delve into the science and delivery of genetics.

13

The ChromoMap prenatal screenChromoMap 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.

The FertilityMap studyFertilityMap is Recombine’s first large-scale, multivariate study investigating the genetic basis of infertility, with the goal of improving pregnancy success rates.

NEW OFFERINGSCOMPLETE CARE WITH

14

FERTILITY GENOMICSAN INNOVATIVE STUDY OF

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.

600+

Clinical Variables 50+

Genetic Variants

Data Points Included in FertilityMap Quantity

15

Collaborative Complimentary SeamlessBe a part of the

largest-ever fertility genomics study.

Integrate into your practice with

CarrierMap.

Participate at no cost to you or your

patients.

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 161, Trisomy 91, Sex Aneuploidies1, and Microdeletions1.

PRENATAL SCREENINGA POWERFUL TEST FOR

Abnormalities Screened Positive Predictive Value2 Negative Predictive Value2

0.994 0.9996

Trisomy 18 0.910 0.9996

Trisomy 13 0.843 1.0000

Trisomy 21

1Available as optional add-ons to the traditional panel.2Futch T, Spinosa J, Bhatt S, de Feo E, Rava RP, Sehnert AJ. 2013. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn. 33:569-574.Illumina® and the Powered by Illumina™ logo are trademarks of Illumina, Inc. in the U.S. and other countries.

16

Scientific Technological ReliableRigorously validated

in scientific and clinical studies.

The lowest test failure rate in the

industry.

Deeper sequencing for greater and more

accurate insight.

17

RECOMBINE FACTS

Facts About CarrierMap CarrierMap Others*

> 250 < 110

> 2000 < 500

Jewish Panel Diseases

> 20 < 5

Cystic Fibrosis Mutations

> 60 < 35

Number of Diseases

> 140 < 100

Number of X-Linked Diseases

Alpha Thalassemia Detection

> 20 None

> 90% Not Tested

Number of Mutations

Spinal Muscular Atrophy Point Mutations

Included Included

Ability to Add New Diseases

Yes No

Genotyping

Yes No

Yes Yes

Detection of Large Insertions/Deletions

Yes Yes

Fragile X

Sequencing

Free Genetic Counseling Yes Yes

30+ Minutes 5-10 Minutes

Turnaround Time for Results

Yes No

Cost per Disease

5 - 7 Days ~ 7 Days

$1.38 $5.60

Complimentary PGD

Blood, Saliva & Semen

Blood, Saliva

Average GC Session

Sample Types Accepted

18*Data as per recent marketing materials.

19 20

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-Phosphoglycerate Dehydrogenase Deficiency (1)

5-Alpha Reductase Deficiency (16)

6-Pyruvoyl-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: POLG

Related (27)

Ataxia with Vitamin E Deficiency (5)*

Ataxia-Telangiectasia (19)*

Autosomal Recessive Polycystic 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 Pseudodeficiency (4)

Beta-Ketothiolase Deficiency (15)*

Biotinidase Deficiency (10)*

Bloom Syndrome [ACMG] (26)*

Canavan Disease [ACOG/ACMG] (10)*

Carnitine Palmitoyltransferase IA Deficiency (7)

Carnitine Palmitoyltransferase 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: PRPS1 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: PMM2 Related (5)*

Congenital Disorder of Glycosylation: Type 1B: MPI 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 Perceptive

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 Protein Deficiency (7)

Diabetes: Recessive Permanent Neonatal (2)

Dihydropyrimidine Dehydrogenase Deficiency (3)

Du Pan 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-Phosphate 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)

DISEASE LIST [ACOG] = Recommended by ACOG. [ACMG] = Recommended by ACMG.*Disease has sequencing option.

The following diseases are including in CarrierMap, with the indicated number of mutations in (parenthesis).

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 Pudlak Syndrome: Type 1 (1)

Hermansky-Pudlak 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: CEP290 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 Protein 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 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: PPT1 Related (8)

Neuronal Ceroid-Lipofuscinosis: TPP1 Related (9)

Niemann-Pick Disease: Type A [ACMG] (5)*

Niemann-Pick Disease: Type B (2)*

Niemann-Pick Disease: Type C1 (14)*

Niemann-Pick 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)

Pendred Syndrome (9)*

Persistent Mullerian Duct Syndrome: Type I (8)

Persistent Mullerian Duct Syndrome: Type II (15)

Phenylalanine Hydroxylase Deficiency (17)*

Polyglandular Autoimmune Syndrome: Type 1 (5)*

Primary Hyperoxaluria: Type 1 (12)*

Primary Hyperoxaluria: Type 2 (3)*

Primary Hyperoxaluria: Type 3 (2)*

Progressive Cerebello-Cerebral Atrophy: Type 2 (2)

Progressive Familial Intrahepatic Cholestasis: Type 2 (5)*

Propionic Acidemia: PCCA Related (4)

Propionic Acidemia: PCCB Related (13)

Pseudocholinesterase Deficiency (1)

Pycnodysostosis (2)

Pyruvate Dehydrogenase Deficiency: Autosomal Recessive (2)

Pyruvate Dehydrogenase Deficiency: X-Linked (4)

Retinal Dystrophies: RLBP1 Related (3)

Retinitis Pigmentosa: Autosomal Recessive: DHDDS Related (1)

Rhizomelic Chondrodysplasia Punctata: 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: PEX1 Related (3)*

Zellweger Spectrum Disorders: PEX10 Related (2)*

Zellweger Spectrum Disorders: PEX2 Related (1)

Zellweger Spectrum Disorders: PEX6 Related (9)