REPRODUCTIVE HEALTH. Phosphorus. Diagnostics

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1 REPRODUCTIVE HEALTH Phosphorus Diagnostics

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3 Genomics, Illuminated We focus on your peace of mind. Our expert-guided assay designs, powerful data analytics, and rigorous variant interpretation ensure accurate results for your patients. Each test is flexible, because each case is unique. Our comprehensive and customizable panels are designed to handle the complexity of each patient s clinical history. Simple, well-vetted patient reports are our forte. We create reports you and your patients can understand, giving you the depth and simplicity you need to confidently use and communicate results. Consider us another set of hands. Our knowledgeable support team is here to help: from genetic counseling, to lab support, to facilitating family member testing, we want your workflow to be seamless. We take care of billing so you don t have to. Transparent prices and billing policies are our priority, so you can spend time with your patients not insurance companies. We re driven by a broader mission. We re scientists at the core, and we want to work with you to conduct novel research into the genetics of multifactorial disease.

4 Reproductive Health Phosphorus Diagnostics offers infertility tests for both women and men, as well as carrier screening through CooperGenomics SM. Additional genes may be ordered for carrier screening up to 90 days after testing at no cost to the patient, if an expanded disease panel is deemed clinically necessary. Infertility Genes: 93 A genetic test that examines multiple genetic factors that may impact a patient s fertility or response to fertility treatment. Panels Female Infertility (73 genes) Male Infertility (20 genes) CarrierMap SM Expanded Carrier Screening Genes: 302 A genetic carrier screen for 300+ diseases to help determine a patient s risk of having a child with a genetic disease. Offered in partnership with CooperGenomics SM. Panels CarrierMap Expanded Carrier Screening Why Fertility Genetics? REFINING DIAGNOSIS CLINICAL DECISION-MAKING RISK ASSESSMENT Genetic testing uncovers genetic contribution to infertility etiology. Genetic findings may facilitate personalized treatment planning and improved clinical outcomes. Identifying at-risk patients provides opportunities for early intervention, including fertility preservation.

5 Simple Testing Workflow 1 SAMPLE COLLECTION Blood and/or saliva collection kits are shipped directly from Phosphorus to providers offices. Patient forms are included in the kits, along with a prepaid FedEx Clinical Pak. 2 DNA ANALYSIS Patient DNA is extracted and processed using next-generation sequencing technology in our CLIA-certified lab. Data is analyzed using Phosphorus proprietary bioinformatics software, Elements. 3 REPORTING All variant interpretations are vetted through a rigorous quality control process that includes internal validations by Ph.D. scientists. Patient reports are sent to providers via secure . 4 FOLLOW-UP Phosphorus is with you every step of the way and can provide referrals to board-certified genetic counselors through our third-party network. Genetic counselors are qualified to explain variants, genes, and conditions to patients.

6 In-House Testing Partnership Phosphorus envisions a world where every healthcare decision is optimized with genomics. We want to help your practice take advantage of precision medicine with state-of-the-art genomic science. Four distinct components of our in-house testing partnership allow your practice to seamlessly enter the fastest growing area in lab testing today: Predesigned Sequencing Assays NGS-based sequence capture designs in a variety of specialty areas Easily customizable disease panels NGS target enrichment panels Microarray gene panels qpcr assay designs and optimization Sanger confirmation workflows Bioinformatics and Software Phosphorus Elements: An out-of-the-box software solution for running genetic testing in-house Patient sample analysis Quality control assistance Reimbursement Consulting All sequencing assays designed with medical necessity in mind Reimbursement strategy consulting and review Operational Assistance Advice on lab equipment purchases and setup Protocols, validation, accreditation assistance, and personnel training

7 ORDERING PRACTICE Practice Code: 100 Sample Cardiology Clinic 374 Broadway New York, NY Physician: Dr. Sample JANE DOE DOB: Gender: Female Ethnicity: European Procedure ID: Kit Barcode: Specimen: Blood, #10000 Specimen Collected: Specimen Received: Specimen Analyzed: Report Generated: PERFORMED AT PHOSPHORUS DIAGNOSTICS, 3 REGENT STREET, LIVINGSTON, NJ TEST INFORMATION Panel: Pan Arrhythmia and Cardiomyopathy Panel Indication: Diagnostic for Patient History SUMMARY OF RESULTS GENE LOCATION VARIANT INHERITANCE ZYGOSITY CLASSIFICATION KCNQ1 Exon 6; Chrom 11 c.914g>a Autosomal Dominant Heterozygous PATHOGENIC (p.trp205ter) MYH7 Exon 38; Chrom 14 c.26647g>a Unknown Heterozygous UNCERTAIN (p.glu1883lys) SIGNIFICANCE INTERPRETATION This patient is heterozygous for the c.914g>a (p.trp205ter) pathogenic variant in KCNQ1. This result indicates that this patient may be affected with, or predisposed to developing, long QT syndrome. This patient is also heterozygous for the c.185g>a (p.lys65ala) variant of unknown clinical significance in MYH7. The contribution of this variant to the patient s phenotype is unknown. RECOMMENDATIONS Clinical follow-up with a cardiologist or cardiogeneticist is recommended to discuss medical management. Genetic counseling is recommended for this patient. Genetic testing may be useful in identifying family members at risk for disease. Genetic counseling is recommended for all individuals undergoing genetic testing. VARIANT INFORMATION PATHOGENIC KCNQ1 c.914g>a (p.trp305ter) This variant leads to a premature termination at codon 305, which is expected to result in an absent or significantly disrupted protein product. Variants resulting in truncations have been previously reported in long QT Syndrome. This mutation does not appear in large population databases, indicating it is not a common variant. This variant has been shown to segregate with disease in one family with long QT syndrome (PMID: ). Therefore, this variant is classified as pathogenic. GENE INFORMATION: KCNQ1 The KCNQ1 gene encodes the potassium voltage-gated channel subfamily KQT member 1 protein which is involved in the regulation of action potentials within cardiac tissue, which control cardiac contraction. Mutations in KCNQ1 are associated with autosomal dominant long QT syndrome (MIM: ), short QT syndrome (MIM: ), atrial fibrillation (MIM: ) and autosomal recessive Jervell and Lange-Nielsen syndrome (MIM: ). Mutations in KCNQ1 are responsible for ~40% of long QT syndrome PMID( ). UNCERTAIN SIGNIFICANCE MYH7 c.26647g>a (p.glu1883lys) This variant has been reported in a homozygous state in a 44 year old man with hypertrophic cardiomyopathy and myopathy. The parents were unaffected heterozygous carriers. (PMID: ). Other mutations that have been associated with myopathy and hypertrophic cardiomyopathy have been identified in this region (Arg 1845Trp and Glu1886Lys) which supports the functional importance of this protein region (PMID: , PMID: ). This variant does not appear in population databases, including Exac. Polyphen in silico analysis predicts the variant to be probably damaging. In summary, there is inconclusive evidence to determine whether this is a damaging, pathogenic variant or benign, rare variant-therefore, at this time this variant has been determined to be a variant of unknown significance. GENE INFORMATION: MYH7 The MYH7 gene encodes the myosin heavy chain 7 protein which is involved in cardiac muscle contraction. Mutations in MYH7 are associated with autosomal dominant hypertrophic cardiomyopathy (OMIM ID: ), dilated cardiomyopathy (OMIM ID: ), left ventricular noncompaction (OMIM ID: ), autosomal dominant and recessive myosin storage myopathy (OMIM ID: , ), and other disorders (OMIM: , ). CLIA #31D Phosphorus support@phosphorus.com PPACR 1.0 Jane Doe 1/4 Elements Software Solution Phosphorus Elements software is a HIPAA-compliant, cloud-based software suite to support in-house genetic testing. Elements consists of six primary modules that follow the workflow of collecting, tracking, analyzing, and reporting the results of a clinical DNA sample. Positive: Pathogenic Variant Identified

8 Phosphorus Diagnostics 8 support@phosphorus.com