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Clinical Scenario
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Acne
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G6PD
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Individuals prior to treatment for acne
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Treatment with dapsone
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Acute Cellular Rejection (ACR)
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Gene Expression
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Heart Transplant Patients
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Risk Assessment for low/moderate ACR
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Acute Lymphoblastic Leukemia (ALL)
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TPMT
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Individuals prior to treatment for ALL
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Treatment with 6-mercaptopurine
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Acute Myeloid Leukemia (AML)
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FLT3
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Individuals prior to treatment for AML
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Treatment with standard chemotherapeutic agents or tyrosine kinase inhibitor drugs
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Adenocarcinoma or Mesothelioma
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microRNA Detection
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Individuals with symptoms of Adenocarcinoma or Mesothelioma
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Diagnosis of Adenocarcinoma or Mesothelioma
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Adolescent Idiopathic Scoliosis (AIS)
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Multigene Panel
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Individuals diagnosed with AIS
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Prognosis and management
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Ageing
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telomere analysis
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General population
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Assessment of biological age
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Alzheimer’s Disease (AD)
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ApoE
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1) Dementia patients; 2) Individuals with a family history of dementia; and 3) General population
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1) Diagnosis; 2) and 3) Predictive testing/ risk assessment
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variations of the androgen receptor (AR) gene
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Likelihood of developing androgenetic alopecia
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Angina
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CYP2D6
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Individuals diagnosed with angina
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Treatment with Perhexiline
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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
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Multigene Panel
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Individuals with clinical suspicion and family members
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Diagnosis, management and risk
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Asthma
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ADRB2
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Individuals treated for asthma
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Treatment with albuterol
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Atrial Fibrillation and Stroke
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Chromosome 4q25
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General Population
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Risk assessment
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Bipolar Disorder
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GRK3, CACNG2, NTRK2, SP4, HTTLPR, PDE11A, GNB3
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Individuals with clinical suspicion of Bipolar Disorder
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1) Diagnosis and 2) Treatment with antidepressants
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Bladder Cancer
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aneuploidy for chromosomes 3, 7, 17, and loss of the 9p21 locus
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Individuals with hematuria suspected of having bladder cancer
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1) Diagnosis of bladder cancer and 2) subsequent monitoring for tumor recurrence in patients previously diagnosed with bladder cancer
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Bladder Cancer
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MMP-9, MMP-2, ADAM12 and FGFR3
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General Population
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To identify a cohort of patients who do not have bladder cancer; but have symptoms
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Bladder Cancer
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gene expression
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Individuals at high risk of developing bladder cancer
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Diagnosis of bladder cancer
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Breast Cancer
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CYP2D6 polymorphisms
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Women with breast cancer
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Treatment with Tamoxifen therapy
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Breast Cancer
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PI3K oncogene
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Patients suffering from breast cancer
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Predictive for treatments
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Breast Cancer
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tumor cells that show epithelial-mesenchymal transition (EMT) or stem cell-like metabolism
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Women with breast cancer
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1) Early determination of therapy failure and 2) the potential risk of resistance to a given therapeutic interve
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Breast Cancer
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HER-2/neu
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Individuals prior to treatment for BrCa
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Treatment with trastuzumab and progression/outcome prediction
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Breast Cancer
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BLN Assay
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Individuals diagnosed with breast cancer during surgery
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Diagnosis and management
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Breast Cancer
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BRCA1/2
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Individuals diagnosed with BrCa and their family members
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Management of individuals and early detection/prevention for family members
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Breast Cancer
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CYP2D6
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Individuals prior to treatment for BrCa
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Treatment with tamoxifen
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Breast Cancer
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SNP Markers
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General Population
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Predictive testing – risk assessment
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Breast Cancer (BrCa)
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Multigene panel
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General population of women
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Predictive testing/risk assessment
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Cancer
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genome-wide SNP array for copy number and loss of heterozygosity
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Persons with cancer
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Prognosis
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Cancer
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p53 gene mutations
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Individuals diagnosed with cancer
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Predictive for treatment
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Cancer
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PIK3CA mutations
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Persons with cancer
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1) Companion diagnostics alongside PIK3CA inhibitor drugs, and 2) possible aid in cancer screening and early detection
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Cancer
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DPYP, TYMS
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Individuals prior to treatment for various cancers
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Treatment with 5-fluorouracil (5-FU)
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Cancer of unknown primary origin
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Multigene Expression Panel
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Individuals with metastatic cancer
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Diagnosis and Management
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Cancer of unknown primary origin
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microRNA Detection
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Individuals with metastatic cancer
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Diagnosis and Management
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Cardiac Channelopathies
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Multigene panel
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Clinical suspicion or family history of cardiac channelopathies
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Diagnosis and management
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Cardiovascular Disease
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MTHFR
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Individuals with family history of CVD
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Prevention and management
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Cardiovascular Disease
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ApoE
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General population
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Predictive testing – Risk determination
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Cardiovascular Disease (CVD)
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CYP450
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Individuals treated for CVD
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Treatment with beta-blockers and proton pump inhibitor drugs
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Carrier screening for 448 autosomal and X-linked recessive diseases
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Sequencing
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Prospective parents
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To inform prospective parents what severe genetic diseases they are carriers for, diseases that together they might pass on to their children
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Celiac Disease
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HLA DQ2 & DQ8
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Individuals with clinical suspicion of Celiac Disease
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Diagnosis and management
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Chronic Myelogenous Leukemia (CML)
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BCR/ABL
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Individuals with a diagnosis, clinical suspicion or family history of CML
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Diagnosis and treatment monitoring
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Colon Cancer
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Gene expression panel
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General Population
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Screening for and diagnosis of colon cancer
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Colon Cancer
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multiple gene profile
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Patients with stage II colon cancer
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Assessment of risk of recurrence following surgery
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Colorectal Cancer
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IGF2
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Asymptomatic people in their 20’s and 30’s
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Identify people at increased risk of developing colorectal cancer
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Colorectal Cancer
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microRNA
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General Population
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Identifying persons with colorectal cancer
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Colorectal Cancer
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gene expression (ERCC1, TS, EGFR, VEGFR2) and mutation (KRAS, BRAF)
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Individuals diagnosed with colon cancer
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Predictive for treatments
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Colorectal Cancer
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PI3K
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Individuals diagnosed with colon cancer
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Predictive for treatments
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Colorectal Cancer
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KRAS
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Colorectal Cancer Patients
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Treatment with anti-EGFR therapy
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Colorectal Cancer (CRC)
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fecal DNA
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General population
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Population screening
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Colorectal Cancer (CRC)
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Septin 9 DNA methylation
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General Population
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Diagnosis of early colorectal cancer
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Colorectal cancer, metastatic disease
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guanylyl cyclase c (GCC)
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Adults having surgery for colorectal cancer
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Diagnosis for spread of cancer to lymph nodes
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Cytogenetic abnormalities
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135,000 oligonucleotide chip,* confirmed by FISH
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Affected families
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Diagnose any of over 200 recognized cytogenetic syndromes
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Cystic Fibrosis (CF)
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CFTR
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Individuals with clinical suspicion or family history of CF
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Diagnosis and carrier testing
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Deafness
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GJB1, GJB2, GJB3, GJB6
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Individuals who failed initial newborn screening hearing tests
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Newborn screening follow-up
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Developmental Delay
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cGH Array
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Children who exhibit possible developmental delay
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Diagnosis and management
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Diabetes, Type II
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pPARG2
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1) Individuals with clinical suspicion or family history of diabetes; 2) General population
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1) Diagnosis; and 2) Predictive testing/risk assessment
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Diabetes, Type II
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TCF7L2
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General population
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Predictive testing/risk assessment
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Menopause, Early
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Fragile X or FMR1
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Women
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Prediction of ovarian ageing
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Exfoliation Glaucoma
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SNP Detection (LOXL gene)
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General Population
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Risk prediction
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Fetal Chromosome Abnormalities
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sequencing of fetal DNA in material blood
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Pregnant Individuals
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Diagnosis and residual disease prediction
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Gastric Cancer
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expression of ERCC1, TS, and HER2
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Persons with gastric cancer
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Treatment with 5-fluorouracil-folinic acid-oxaliplatin (FOLFOX) or alternatives
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Genital Herpes
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Human MBL2 gene
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Patients recently diagnosed with genital herpes
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To identify those individuals who will have frequent outbreaks (more than 6 times per year) of genital herpes and may be a good candidate for long-term preventive therapy
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Glioblastoma multiforme (GBM)
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EGFRvIII
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Adults with newly diagnosed GBM
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Predict response to treatment with the investigational drug PF-04948568 (CDX-110) which targets the tumor-specific Epidermal Growth Factor Receptor variant III (EGFRvIII)
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Head and Neck Cancer
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XPF, pMK2, PAR, pH2AX, FANCD2, ATM, BRCA1, RAD51, ERCC1(clone8F1)
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Persons diagnosed with head and neck cancer
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Predictive for treatment
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Hearing Loss
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multigene panel
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Children who exhibit hearing loss
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Diagnosis and management
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Hereditary hemorrhagic telangiectasia (HHT)
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ALK1
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Individuals with clinical suspicion of Hereditary hemorrhagic telangiectasia type 2 (HHT2)
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Diagnosis
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Hereditary Hemochromatosis (HHC)
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HFE
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1) Individuals with clinical suspicion of HHC; 2) General population
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1) Diagnosis; 2) Predictive testing/risk assessment
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Hypertension
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multi-SNP panel
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General Population
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Risk prediction of hypertension
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Inflammatory Bowel Disease
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TPMT
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Individuals diagnosed with Inflammatory Bowel Disease
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Treatment with Azothiopurine
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Jaundice
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Multigene Panel
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Children with symptoms of Jaundice / Diagnosis of cause of jaundice
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Diagnosis of cause of jaundice
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Large B-cell Lymphoma
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gene signature
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Patients with diffuse large B-cell lymphoma
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Predict sensitivity to the partial CD40 agonist, dacetuzumab (SGN-40)
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Lung Cancer
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gene expression
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Persons with suspected lung cancer
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Diagnosis of lung cancer
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Lung Cancer
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PI3K
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Patients suffering from lung cancer
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Predictive for treatments
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Lung Cancer
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SHOX2 methylation
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Patients with suspected lung cancer
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1) To complement the findings from clinic and pathology and 2) provide valuable information regarding the presence of lung cancer
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Lung Cancer
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20 SNPs combined with three non-genetic factors (age, family history of lung cancer, and past history of COPD)
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Smokers
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Encourage smoking cessation
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Lung Cancer
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GSTM1
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Individuals with clinical suspicion of lung cancer
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Predictive testing/risk assessment
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Lung Cancer, Non-Small Cell (NSC)
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EGFR, KRAS
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Individuals prior to treatment for NSC lung cancer
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Treatment with tyrosine kinase inhibitor (TKI) drugs (gefitinib, erlotinib)
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Lung, breast, colorectal and other cancers
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EGFR
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Patients suffering from lung, breast, colorectal and other cancers
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Predictive for treatments
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Malignant Hyperthermia
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RYR1
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High risk individuals prior to surgery
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Management in surgery
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Mature-Onset Diabetes of the Young (MODY)
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Multigene panel
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Individuals with suspected or diagnosed MODY
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Diagnosis and management
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Melanoma
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5 proteins expressed in melanoma
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Melanoma patients
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Recurrence risk in melanoma patients
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Melanoma
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MAGE-A3
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Patients diagnosed with melanoma
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Predictive for treatment
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Melanoma / Pancreatic Cancer
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p16
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General population
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Predictive testing/risk assessment
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Multiple disorders
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Multigene Panels
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General Population
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Risk Prediction
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Myelodysplastic Syndromes
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Hemescan MDS
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Individuals with refractory anemia and clinical suspicion of leukemia
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Risk Assessment and management
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Myeloproliferative disorders
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JAK2
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Individuals with clinical suspicion of myeloproliferative disorders
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Confirm diagnosis
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Myocardial Infarction
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CDKN2A/2B
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General Population
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Risk assessment
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Myocardial infarction, acute coronary syndromes
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cardiac troponin I
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Adults with chest pain
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Early diagnosis of myocardial infarction and risk stratification for acute coronary syndromes
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Non-small Cell Lung Cancer (NSCLC)
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MAGE A3 antigen
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Patients with NSCLC
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Predictive for treatments
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Non-small Cell Lung Cancer (NSCLC)
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ALK gene rearrangements
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Individuals diagnosed with non small-cell lung cancer
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To determine the appropriate dose of chemotherapeutic agent PF-02341066
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Non-small Cell Lung Cancer (NSCLC)
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Gene rearrangements
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Patients with non-small cell lung cancer
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To determine those who are the best candidates for oral therapy for NSCLC tumors
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Non-Small Cell Lung Cancer (NSCLC)
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microRNA Detection
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Individuals with NSCLC
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Diagnosis of subtype
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Osteoporosis
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undetermined
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General adult population
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Risk prediction for osteoporosis
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Pain Management
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CYP450
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Individuals treated for chronic or acute pain
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Treatment with codeine and derivative drugs
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Pancreatitis or Pancreatic Cancer
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microRNA Detection
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Individuals symptoms of pancreatitis or pancreatic cancer
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Diagnosis of pancreatitis or pancreatic cancer
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Parkinson disease
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LRRK2
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Individuals with clinical suspicion or family history of Parkinson’s disease
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Diagnosis and treatment of individuals and family members
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Periodontal disease
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IL-1
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General population
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Population screening
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Pleural Mesothelioma
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Gene ratio test for four genes
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1) persons suspected of having mesothelioma 2) Mesothelioma patients
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1) Diagnosis and 2) treatment for pleural mesothelioma patients
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Prostate Cancer
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TMPRSS2:ERG, T2:ERG ratios
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Persons suspected of having prostate cancer
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Diagnosis of prostate cancer
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Prostate Cancer
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PCA3 mRNA
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General adult male population
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Population Screening
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Prostate Cancer
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uPM3
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General adult male population
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Population screening
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Prostate Cancer
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PITX2 Gene Methylation
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Individuals with previous history of Prostate Cancer
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Reoccurrence risk and prognosis
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Psoriatic Arthritis
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MICA-A9
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Patients with psoriasis
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Identify patients with psoriasis who are at high risk for developing psoriatic arthritis for early intervention to prevent joint damage
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Radiation Exposure
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25 gene expression test
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People suspected of having been exposed to radiation from a ‘dirty bomb’ or nuclear attack
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Screening large numbers of people to determine radiation exposure level
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Retinitis pigmentosa (RP)
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ARRP1
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Individuals with clinical suspicion or family history of RP
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Diagnosis and carrier testing
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Solid Tumors
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MUC1
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Patients with solid tumors
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Diagnosing, selecting therapy, and monitoring therapeutic efficacy in solid tumors
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Stroke & Fabry Disease
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undetermined
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Individuals with a family history of stroke, cardiac or kidney disease
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To assess genetic predisposition of stroke, cardiac or kidney disease
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Suicidal Ideation
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GRIA3, GRIK2
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Individuals diagnosed with depression
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Treatment with fluoxetine
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Thrombophilia
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VKORC1, CYP2C9
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Individuals prior to treatment for thrombophilia
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Treatment with warfarin
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Type III Hyperlipoproteinemia
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ApoE
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Individuals with family history or clinical symptoms of CVD
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Diagnosis of Type III hyperlipoproteinemia
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Weight Management
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Five genetic variations related to fat absorption and metabolism
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General adult population
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To tailor nutritional intake and fitness routine for improved, sustainable results
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X-linked myopathy with postural muscle atrophy
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FHL1
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General adult population
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Identify mutations on the FHL1 gene in an effort to diagnose X-linked myopathy with postural muscle atrophy
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