Topics identified by test to be assessed, target population and intended use
Disorder/Effect
Test to be Assessed*
Target Population
Intended Use
Acne
G6PD
Individuals prior to treatment for acne
Treatment with dapsone
Acute Cellular Rejection (ACR)
Gene Expression
Heart Transplant Patients
Risk Assessment for low/moderate ACR
Acute Lymphoblastic Leukemia (ALL)
TPMT
Individuals prior to treatment for ALL
Treatment with 6-mercaptopurine
Acute Myeloid Leukemia (AML)
FLT3
Individuals prior to treatment for AML
Treatment with standard chemotherapeutic agents or tyrosine kinase inhibitor drugs
Adenocarcinoma or Mesothelioma
microRNA Detection
Individuals with symptoms of Adenocarcinoma or Mesothelioma
Diagnosis of Adenocarcinoma or Mesothelioma
Adolescent Idiopathic Scoliosis (AIS)
Multigene Panel
Individuals diagnosed with AIS
Prognosis and management
Ageing
telomere analysis
General population
Assessment of biological age
Alzheimer’s Disease (AD)
ApoE
1) Dementia patients; 2) Individuals with a family history of dementia; and 3) General population
1) Diagnosis; 2) and 3) Predictive testing/ risk assessment
Androgenetic Alopecia
variations of the androgen receptor (AR) gene
General adult population
Likelihood of developing androgenetic alopecia
Angina
CYP2D6
Individuals diagnosed with angina
Treatment with Perhexiline
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Multigene Panel
Individuals with clinical suspicion and family members
Diagnosis, management and risk
Asthma
ADRB2
Individuals treated for asthma
Treatment with albuterol
Atrial Fibrillation and Stroke
Chromosome 4q25
General Population
Risk assessment
Bipolar Disorder
GRK3, CACNG2, NTRK2, SP4, HTTLPR, PDE11A, GNB3
Individuals with clinical suspicion of Bipolar Disorder
1) Diagnosis and 2) Treatment with antidepressants
Bladder Cancer
aneuploidy for chromosomes 3, 7, 17, and loss of the 9p21 locus
Individuals with hematuria suspected of having bladder cancer
1) Diagnosis of bladder cancer and 2) subsequent monitoring for tumor recurrence in patients previously diagnosed with bladder cancer
Bladder Cancer
MMP-9, MMP-2, ADAM12 and FGFR3
General Population
To identify a cohort of patients who do not have bladder cancer; but have symptoms
Bladder Cancer
gene expression
Individuals at high risk of developing bladder cancer
Diagnosis of bladder cancer
Breast Cancer
CYP2D6 polymorphisms
Women with breast cancer
Treatment with Tamoxifen therapy
Breast Cancer
PI3K oncogene
Patients suffering from breast cancer
Predictive for treatments
Breast Cancer
tumor cells that show epithelial-mesenchymal transition (EMT) or stem cell-like metabolism
Women with breast cancer
1) Early determination of therapy failure and 2) the potential risk of resistance to a given therapeutic interve
Breast Cancer
HER-2/neu
Individuals prior to treatment for BrCa
Treatment with trastuzumab and progression/outcome prediction
Breast Cancer
BLN Assay
Individuals diagnosed with breast cancer during surgery
Diagnosis and management
Breast Cancer
BRCA1/2
Individuals diagnosed with BrCa and their family members
Management of individuals and early detection/prevention for family members
Breast Cancer
CYP2D6
Individuals prior to treatment for BrCa
Treatment with tamoxifen
Breast Cancer
SNP Markers
General Population
Predictive testing – risk assessment
Breast Cancer (BrCa)
Multigene panel
General population of women
Predictive testing/risk assessment
Cancer
genome-wide SNP array for copy number and loss of heterozygosity
Persons with cancer
Prognosis
Cancer
p53 gene mutations
Individuals diagnosed with cancer
Predictive for treatment
Cancer
PIK3CA mutations
Persons with cancer
1) Companion diagnostics alongside PIK3CA inhibitor drugs, and 2) possible aid in cancer screening and early detection
Cancer
DPYP, TYMS
Individuals prior to treatment for various cancers
Treatment with 5-fluorouracil (5-FU)
Cancer of unknown primary origin
Multigene Expression Panel
Individuals with metastatic cancer
Diagnosis and Management
Cancer of unknown primary origin
microRNA Detection
Individuals with metastatic cancer
Diagnosis and Management
Cardiac Channelopathies
Multigene panel
Clinical suspicion or family history of cardiac channelopathies
Diagnosis and management
Cardiovascular Disease
MTHFR
Individuals with family history of CVD
Prevention and management
Cardiovascular Disease
ApoE
General population
Predictive testing – Risk determination
Cardiovascular Disease (CVD)
CYP450
Individuals treated for CVD
Treatment with beta-blockers and proton pump inhibitor drugs
Carrier screening for 448 autosomal and X-linked recessive diseases
Sequencing
Prospective parents
To inform prospective parents what severe genetic diseases they are carriers for, diseases that together they might pass on to their children
Celiac Disease
HLA DQ2 & DQ8
Individuals with clinical suspicion of Celiac Disease
Diagnosis and management
Chronic Myelogenous Leukemia (CML)
BCR/ABL
Individuals with a diagnosis, clinical suspicion or family history of CML
Diagnosis and treatment monitoring
Colon Cancer
Gene expression panel
General Population
Screening for and diagnosis of colon cance
Colon Cancer
multiple gene profile
Patients with stage II colon cancer
Assessment of risk of recurrence following surgery
Colorectal Cancer
IGF2
Asymptomatic people in their 20’s and 30’s
Identify people at increased risk of developing colorectal cancer
Colorectal Cancer
microRNA
General Population
Identifying persons with colorectal cancer
Colorectal Cancer
gene expression (ERCC1, TS, EGFR, VEGFR2) and mutation (KRAS, BRAF)
Individuals diagnosed with colon cancer
Predictive for treatments
Colorectal Cancer
PI3K
Individuals diagnosed with colon cancer
Predictive for treatments
Colorectal Cancer
KRAS
Colorectal Cancer Patients
Treatment with anti-EGFR therapy
Colorectal Cancer (CRC)
fecal DNA
General population
Population screening
Colorectal Cancer (CRC)
Septin 9 DNA methylation
General Population
Diagnosis of early colorectal cancer
Colorectal cancer, metastatic disease
guanylyl cyclase c (GCC)
Adults having surgery for colorectal cancer
Diagnosis for spread of cancer to lymph nodes
Cytogenetic abnormalities
135,000 oligonucleotide chip,* confirmed by FISH
Affected families
Diagnose any of over 200 recognized cytogenetic syndromes
Cystic Fibrosis (CF)
CFTR
Individuals with clinical suspicion or family history of CF
Diagnosis and carrier testing
Deafness
GJB1, GJB2, GJB3, GJB6
Individuals who failed initial newborn screening hearing tests
Newborn screening follow-up
Developmental Delay
cGH Array
Children who exhibit possible developmental delay
Diagnosis and management
Diabetes, Type II
pPARG2
1) Individuals with clinical suspicion or family history of diabetes; 2) General population
1) Diagnosis; and 2) Predictive testing/risk assessment
Diabetes, Type II
TCF7L2
General population
Predictive testing/risk assessment
>Menopause, Early
Fragile X or FMR1
Women
Prediction of ovarian ageing
Exfoliation Glaucoma
SNP Detection (LOXL gene)
General Population
Risk prediction
Fetal Chromosome Abnormalities
sequencing of fetal DNA in material blood
>Pregnant Individuals
Diagnosis and residual disease prediction
Gastric Cancer
expression of ERCC1, TS, and HER2
Persons with gastric cancer
Treatment with 5-fluorouracil-folinic acid-oxaliplatin (FOLFOX) or alternatives
Genital Herpes
Human MBL2 gene
Patients recently diagnosed with genital herpes
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
Glioblastoma multiforme (GBM)
EGFRvIII
Adults with newly diagnosed GBM
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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