BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.

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1 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.

2 Broaden your patient s options with Inheritest SM Carrier Screen In addition to our comprehensive menu of single gene carrier screening tests, we can now offer you and your patients the option of the Inheritest Carrier Screen to help support your practice needs. For situations where it is difficult to assign a single ethnicity to a patient and you recommend broader carrier screening, the Inheritest Carrier Screen provides genetic information regarding greater than 90 autosomal recessive inherited diseases found throughout the pan-ethnic US population. Inheritest Carrier Screen Provides: Mutation analysis of over 430 common mutations found in 87 different genes, associated with greater than 90 different inherited diseases, providing you with carrier status information for these disease-causing mutations New array platform allowing for many diseases to be evaluated in one test Succinct and informative summary reports, providing details about any positive result up front for easy review Two specimen options available: blood and saliva

3 Empower Your Patients Many patients may not be aware of their genetic family history or carrier status for an autosomal recessive disease prior to having a child affected with the disease. In those clinical situations, providing broader testing options to your patients can empower them with information regarding current, and/or future pregnancies. Knowing their carrier status and risk for having an affected child can allow them to consider the full range of options available to them, which may include: Prenatal or diagnostic testing options such as amniocentesis or CVS, which could help determine whether or not the fetus has inherited the disease-causing mutations In vitro fertilization which could include testing the embryos using pre-implantation genetic diagnosis (PGD) Additional family planning options Expect More from Your Genetics Testing Partner Through the extensive network of services provided by Integrated Genetics and LabCorp, we offer you and your patients a broad array of services, individual tests and profiles. ADDITIONAL TESTING OPTIONS In addition to offering the Inheritest and Inheritest Select Carrier Screens, Integrated Genetics offers other carrier screening options for diseases found in similar frequencies in the general population and for which ACOG and/or ACMG have provided guidelines for when screening may be appropriate. 1-5 Spinal Muscular Atrophy The most common inherited cause of early childhood mortality Fragile X syndrome The leading cause of inherited mental retardation Full hemoglobinopathy screening, utilizing a CBC and hemoelectrophoresis assay If both members of a couple are found to be carriers of the same disease causing gene, Integrated Genetics has a unique ability to perform prenatal testing on amniotic fluid and CVS for any diseases included in our Inheritest Carrier Screen. This fetal testing will be performed as targeted sequencing of only the identified mutations that the parents carry.

4 GENETIC COUNSELING Our trusted genetic counseling services are now available remotely to patients with positive Inheritest Carrier Screen results through the Telegenetic Counseling to You program. Available to patients through telephone or tele-video, the Telegenetic Counseling to You program will include: An explanation of the Inheritest Carrier Screen results to patients Evaluation of other genetic risks to the pregnancy or intended pregnancy based on family history provided by the patient to the genetic counselor A review of appropriate follow-up testing options with patients, if applicable based on the genetic risk assessment performed by the genetic counselor A genetic counseling report for the referring physician, summarizing the genetic risks identified and testing options discussed during the counseling session Patients with positive Inheritest Carrier Screen results referred by their physicians for genetic counseling can call (855)GC-CALLS ( ) to schedule an appointment. ADDITIONAL SUPPORT SERVICES All test results and interpretations are reviewed by our board certified Clinical Molecular Geneticists, providing you with added confidence in the results Extensive network of Patient Service Centers, allowing for easy sample collection Multiple online and electronic ordering and resulting capabilities, providing your office with easy solutions Knowledgeable client services team to help answer any questions about your testing Integrated Genetics (800)

5 Experience You Can Trust Trust in the experience of our board-certified Molecular Geneticists. The same genetics experts at Integrated Genetics and LabCorp reviewed the more common inherited diseases found within the pan-ethnic US population to deliver a broad carrier screening option relevant to the general population. In addition, the Inheritest Select Carrier Screen is also available, providing a test that evaluates a smaller panel of diseases for patients of Ashkenazi Jewish descent. These options may minimize your need for multiple ethnic-based testing scenarios. The Inheritest Carrier Screen includes: Adenosine Deaminase Deficiency Alpha-Mannosidosis Andermann Syndrome Argininosuccinic Aciduria Aspartylglucosaminuria Ataxia-Telangiectasia Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Bardet Biedl Syndrome, BSS1-related Bardet Biedl Syndrome, BSS10-related Beta Hemoglobinopathies, Hemoglobins C,D,E,O Beta Thalassemia Bloom Syndrome* Canavan Disease* Cartilage-Hair Hypoplasia Citrullinemia Type I Cobalamin C Disease (Methlymalonic Aciduria with Homocystinuria) Congenital Disorder of Glycosylation Type 1a Cystic Fibrosis* Cystinosis D-Bifunctional Protein Deficiency Dihydrolipoamide Dehydrogenase Deficiency* Dihydropyrimidine Dehydrogenase Deficiency Ethylmalonic Encephalopathy Familial Dysautonomia* Familial Hyperinsulinism, ABCC8-related* Familial Mediterranean Fever Fanconi Anemia Group C* Galactosemia, GALT-related Gaucher Disease* Glutaric Acidemia Type I Glutathione Synthetase Deficiency Glycine Encephalopathy, GLDC-related Glycogen Storage Disease Type Ia* Glycogen Storage Disease Type Ib Glycogen Storage Disease Types IIIa and IIIb GRACILE Syndrome Hereditary Fructose Intolerance HMG-CoA Lyase Deficiency Holocarboxylase Synthetase Deficiency Homocystinuria, CBS-related Joubert Syndrome 2* Junctional Epidermolysis Bullosa, LAMA3-related Junctional Epidermolysis Bullosa, LAMB3-related Junctional Epidermolysis Bullosa, LAMC2-related Krabbe Disease Leigh Syndrome, French-Canadian Type Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Maple Syrup Urine Disease Type 1a* Maple Syrup Urine Disease Type 1b* Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Metachromatic Leukodystrophy Methylmalonic Acidemia, MMAA-related Methylmalonic Acidemia, MMAB-related Methylmalonic Acidemia, MUT-related Mucolipidosis Type IV* Mucopolysaccharidosis Type I Nemaline Myopathy, NEB-related* Nephrotic Syndrome, NPHS1-related Nephrotic Syndrome, NPHS2-related Neuronal Ceroid-Lipofuscinosis, CLN3-related Neuronal Ceroid-Lipofuscinosis, CLN5-related Neuronal Ceroid-Lipofuscinosis, CLN8-related Neuronal Ceroid-Lipofuscinosis, PPT1-related Neuronal Ceroid-Lipofuscinosis, TPP1-related Niemann-Pick Type A* Niemann-Pick Type B* Niemann-Pick Type C, NPC1-related Niemann-Pick Type C, NPC2-related Nijmegen Breakage Syndrome Phenylalanine Hydroxylase Deficiency (includes PKU) Polycystic Kidney Disease, Autosomal Recessive Pompe Disease Primary Hyperoxaluria Type 1 Primary Hyperoxaluria Type 2 Propionic Acidemia, PCCA-related Propionic Acidemia, PCCB-related Rhizomelic Chondrodysplasia Punctata Type 1 Salla Disease Sandhoff Disease Sickle Cell Disease Sjogren-Larsson Syndrome Smith-Lemli-Opitz Syndrome Sulfate Transporter-Related Osteochondrodysplasias Achondrogenesis Type 1B Atelosteogenesis Type 2 Diastrophic Dysplasia Recessive Multiple Epiphyseal Dysplasia Tay-Sachs Disease* Tyrosinemia Type 1 Usher Syndrome Type IF* Usher Syndrome Type III* Walker-Warburg Syndrome, FKTN-related* Wilson Disease Zellweger Syndrome Spectrum, PEX1-related Zellweger Syndrome Neonatal Adrenoleukodystrophy Infantile Refsum Disease *Included on the Inheritest Select Carrier Screen.

6 Your One Resource for Genetic Testing ALLOW INTEGRATED GENETICS TO BE YOUR COMPLETE RESOURCE FOR GENETIC TESTING Experience You Can Trust Offering over 25 years of genetic testing expertise from board certified Molecular Geneticists Broad Test Offerings Inheritest Carrier Screen, provides information regarding greater than 90 inherited diseases Inheritest Select Carrier Screen provides an additional option for patients of Ashkenazi Jewish descent Follow-up fetal testing for at-risk pregnancies Comprehensive Service Offerings Largest commercial genetic counseling network in the country Extensive Patient Service Center network REFERENCES: 1) Spinal Muscular Atrophy. ACOG Committee Opinion Number 432. May ) Prior, T. Carrier screening for spinal muscular atrophy. ACMG Practice Guidelines. Genet Med 2008; 10(11): ) Sherman, S, et al. Fragile X syndrome: Diagnostic and carrier testing. ACMG Practice Guideline. Genet Med 2005; 7(8): ) Carrier Screening for Fragile X Syndrome. ACOG Committee Opinion Number 469. October ) Hemoglobinopathies in Pregnancy. ACOG Practice Bulletin, Number 78, January Integrated Genetics Client Services (800) Inheritest SM is a service mark of Laboratory Corporation of America Holdings Laboratory Corporation of America Holdings. All rights reserved. L rep-599-v