GAPP Knowledge Base
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   An integrated, searchable knowledge base of genomic applications in practice and prevention (GAPP).
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Search Results (Found a total of 525 GAPPs )
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Disease/Disorder Test to be Assessed Target Population Intended Use Entered Date   Detail  
Breast cancer, ovarian cancer 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 patients with suspected hereditary cancer predisposition risk prediction 04/30/2013
Nutrition; physiological response to nutrients, and risk for various health conditions panel of 7 genetic tests, available only through registered dietitians not specified not specified; presumably to inform dietary choices 04/01/2013
Multiple conditions; 25 diseases and medical conditions DNA profile, analysis of single nucleotide polymorphisms (SNPs) general population prediction of genetic risk for developing a number of diseases 04/01/2013
Prostate cancer gene expression profile men 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 03/27/2013
Familial cardiac diseases next generation sequencing (NGS) assay not specified 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 02/26/2013
Diffuse large B-cell lymphoma (DLBCL) 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 People with DLBCL Aid physicians in risk stratification and treatment 02/22/2013
Cancer 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) patients with advanced cancer potentially matching tumor-specific alterations with precision drugs (established or experimental targeted therapy directed at specific alterations) 01/09/2013
Lymphoma; non-Hodgkin lymphoma proteomic biomarker test not specified detection of early-stage lymphoma 01/04/2013
Metastatic colorectal cancer (mCRC) combination of digital PCR and flow cytometry; detection of tumor specific somatic mutations in blood samples not specified noninvasive monitoring of drug resistance mediated by KRAS mutations 01/04/2013
Breast cancer proteomic test patients with breast cancer help guide therapy in breast cancer patients; supplement and improve upon HER2 testing 01/04/2013
Colorectal cancer (CRC) biomarker profile; PCR, IHC, FISH people with CRC help oncologists predict potential treatment response and evaluate underlying disease pathways when considering targeted therapies 01/04/2013
Non-small cell lung cancer (NSCLC) biomarker profile; response, resistance and tumor biomarkers; PCR, IHC, FISH patients with NSCLC help oncologists predict potential treatment response and evaluate underlying disease pathways when considering targeted therapies 01/04/2013
More than 3,000 Mendelian disorders 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 not specified prenatal testing 01/04/2013
Breast cancer, brain metastasis 13-gene expression signature patients with advanced HER2-positive breast cancer who have estrogen-receptor (ER)-negative tumors predict development of brain metastasis 12/28/2012
Non-small cell lung adenocarcinoma (NSCLC) proliferation-based mRNA signature involving cell cycle progression (CCP) score early stage adenocarcinoma lung cancer patients support patient care and aid doctors in the identification of aggressive forms of adenocarcinoma lung cancer 12/28/2012
Thyroid cancer panel identifies mutations: BRAF V600E, RAS, RET/PTC, and PAX8/PPAR gamma people undergoing thyroid biopsy help physicians determine if a thyroid gland is cancerous and requires surgical removal; complements FNA cytology testing 12/28/2012
Cancer non-invasive analysis of cell-free tumor DNA from plasma not specified; presumably patients who may have cancer diagnosis, monitoring, informing treatment 12/28/2012
Thymoma tumor gene expression signature for 9 genes patients with thymoma prediction of risk for recurrence; help physicians and patients make decisions about surveillance and therapeutic options 12/28/2012
Familial hypercholesterolemia (FH) 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 not specified; study conducted in Czech population diagnosis/screening 12/28/2012
Wilson Disease (WD) microarray-based test for 97 mutations in ATP7B people suspected of having WD confirm diagnosis of WD, provide information to support genetic counseling 12/28/2012
Brain injury, Alzheimer disease identification of ApoE genotypes (ApoE2, ApoE3, and ApoE4) by determining 2 polymorphisms (rs7412 and rs429358) people with brain injury, people with Alzheimer disease and their relatives brain injury - prognostic; Alzheimer disease - risk prediction 12/28/2012
Hereditary Sensorineural Hearing Loss (SNHL) microarray-based test for 249 mutations in multiple genes not specified determine the molecular genetic basis of nonsyndromic and/or syndromic sensorineural hearing loss and provide information for family genetic counseling 12/28/2012
Norovirus infection RFLP-based test for SNP (rs601338) in FUT2 not specified to determines whether a person is resistant to infection by the most common type of norovirus 12/28/2012
Athletic performance identification of variants in ACE and ACTN3 not specified; presumably general population help predict ability in sprint/strength and/or endurance sports 12/28/2012
Venous thrombosis RFLP-based test for factor V Leiden (FVL), prothrombin G20210A mutation, MTHFR C677T and A1298C mutations not specified risk assessment 12/28/2012
records 1-25
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