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Disease/Disorder
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Test to be Assessed
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Target Population
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Intended Use
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Entered Date
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Detail
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Breast cancer, ovarian cancer
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BROCA cancer risk panel; next-generation sequencing (NGS); compete sequence of exons and flanking introns for 40 genes and detection of deletions, duplications, mosaicism; whole blood sample
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patients with suspected hereditary cancer predisposition
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risk prediction
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04/30/2013
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Nutrition; physiological response to nutrients, and risk for various health conditions
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panel of 7 genetic tests, available only through registered dietitians
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not specified
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not specified; presumably to inform dietary choices
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04/01/2013
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Multiple conditions; 25 diseases and medical conditions
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DNA profile, analysis of single nucleotide polymorphisms (SNPs)
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general population
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prediction of genetic risk for developing a number of diseases
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04/01/2013
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Prostate cancer
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gene expression profile
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men
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predict risk of metastatic prostate cancer independent of PSA and other risk factors, provide information about risk of disease progression after radical prostatectomy, and inform treatment recommendations in high-risk men following surgery
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03/27/2013
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Familial cardiac diseases
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next generation sequencing (NGS) assay
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not specified
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identify people with pathogenic mutations in genes associated with cardiac disease who may need ongoing cardiac screening, lifestyle changes, or clinical intervention to prevent progression and complications
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02/26/2013
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Diffuse large B-cell lymphoma (DLBCL)
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Algorithm combining two-gene expression signature (LMO2, CD137) and International Prognostic Index (IPI); reverse transcriptase-polymerase chain reaction (RT-PCR) assay; paraffin-embedded primary DLBCL tumor tissue sample
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People with DLBCL
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Aid physicians in risk stratification and treatment
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02/22/2013
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Cancer
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tumor genetic profile from next-generation sequencing (NGS) is compared against a panel of 45 cancer-related genes; blood sample and tumor sample (from surgery or biopsy)
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patients with advanced cancer
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potentially matching tumor-specific alterations with precision drugs (established or experimental targeted therapy directed at specific alterations)
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01/09/2013
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Lymphoma; non-Hodgkin lymphoma
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proteomic biomarker test
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not specified
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detection of early-stage lymphoma
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01/04/2013
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Metastatic colorectal cancer (mCRC)
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combination of digital PCR and flow cytometry; detection of tumor specific somatic mutations in blood samples
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not specified
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noninvasive monitoring of drug resistance mediated by KRAS mutations
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01/04/2013
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Breast cancer
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proteomic test
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patients with breast cancer
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help guide therapy in breast cancer patients; supplement and improve upon HER2 testing
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01/04/2013
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Colorectal cancer (CRC)
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biomarker profile; PCR, IHC, FISH
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people with CRC
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help oncologists predict potential treatment response and evaluate underlying disease pathways when considering targeted therapies
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01/04/2013
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Non-small cell lung cancer (NSCLC)
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biomarker profile; response, resistance and tumor biomarkers; PCR, IHC, FISH
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patients with NSCLC
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help oncologists predict potential treatment response and evaluate underlying disease pathways when considering targeted therapies
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01/04/2013
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More than 3,000 Mendelian disorders
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noninvasive fetal whole-genome sequencing (WGS); maternal blood sample and paternal saliva sample; comgination of genome sequencing of 2 parents, genome-wide maternal haplotyping, & deep sequencing of maternal plasma DNA
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not specified
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prenatal testing
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01/04/2013
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Breast cancer, brain metastasis
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13-gene expression signature
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patients with advanced HER2-positive breast cancer who have estrogen-receptor (ER)-negative tumors
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predict development of brain metastasis
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12/28/2012
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Non-small cell lung adenocarcinoma (NSCLC)
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proliferation-based mRNA signature involving cell cycle progression (CCP) score
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early stage adenocarcinoma lung cancer patients
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support patient care and aid doctors in the identification of aggressive forms of adenocarcinoma lung cancer
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12/28/2012
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Thyroid cancer
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panel identifies mutations: BRAF V600E, RAS, RET/PTC, and PAX8/PPAR gamma
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people undergoing thyroid biopsy
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help physicians determine if a thyroid gland is cancerous and requires surgical removal; complements FNA cytology testing
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12/28/2012
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Cancer
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non-invasive analysis of cell-free tumor DNA from plasma
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not specified; presumably patients who may have cancer
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diagnosis, monitoring, informing treatment
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12/28/2012
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Thymoma
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tumor gene expression signature for 9 genes
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patients with thymoma
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prediction of risk for recurrence; help physicians and patients make decisions about surveillance and therapeutic options
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12/28/2012
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Familial hypercholesterolemia (FH)
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APEX (Arrayed Primer EXtension)-based genotyping DNA microarray containing APOB p.Arg3527Gln, 89 LDLR point mutations, small DNA rearrangements detected in Czech FH patients, and 78 mutations frequent in other European and Asian FH populations
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not specified; study conducted in Czech population
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diagnosis/screening
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12/28/2012
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Wilson Disease (WD)
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microarray-based test for 97 mutations in ATP7B
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people suspected of having WD
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confirm diagnosis of WD, provide information to support genetic counseling
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12/28/2012
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Brain injury, Alzheimer disease
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identification of ApoE genotypes (ApoE2, ApoE3, and ApoE4) by determining 2 polymorphisms (rs7412 and rs429358)
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people with brain injury, people with Alzheimer disease and their relatives
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brain injury - prognostic; Alzheimer disease - risk prediction
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12/28/2012
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Hereditary Sensorineural Hearing Loss (SNHL)
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microarray-based test for 249 mutations in multiple genes
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not specified
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determine the molecular genetic basis of nonsyndromic and/or syndromic sensorineural hearing loss and provide information for family genetic counseling
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12/28/2012
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Norovirus infection
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RFLP-based test for SNP (rs601338) in FUT2
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not specified
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to determines whether a person is resistant to infection by the most common type of norovirus
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12/28/2012
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Athletic performance
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identification of variants in ACE and ACTN3
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not specified; presumably general population
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help predict ability in sprint/strength and/or endurance sports
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12/28/2012
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Venous thrombosis
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RFLP-based test for factor V Leiden (FVL), prothrombin G20210A mutation, MTHFR C677T and A1298C mutations
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not specified
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risk assessment
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12/28/2012
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