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 548 GAPPs )
records 1-25
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Disease/Disorder Test to be Assessed Target Population Intended Use Entered Date   Detail  
Various types of cancer lymphocyte genome sensitivity (LGS) test people suspected of having various types of cancer diagnostic aid 07/30/2014
Colorectal cancer Stool DNA (sDNA) based screening test for colorectal cancer; includes a hemoglobin immunoassay and assays for KRAS mutation, methylation of NDRG4 and BMP3, beta-actin General population To detect both early-stage cancer and pre-cancerous growths 03/20/2014
age-related macular degeneration (AMD) "The RetnaGene AMD test is designed to evaluate the risk of early or intermediate AMD progressing to advanced choroidal neovascular disease within 2, 5, and 10 years." (from company website) "at-risk Caucasian patients, 55 years or older, who may progress from early or immediate AMD to advanced choroidal neovascular disease." estimate risk of AMD progression and individualize patient management 01/23/2014
response to medications, including: proton pump inhibitors, anti-epileptics, antidepressants, NSAIDs, angiotensin II blockers, antipsychotics, sulfonylureas, and others listed in a PDF available on website DNAdose is pharmacogenomic test that identifies gene variants in four major enzyme systems related to metabolism of commonly-prescribed medications. "DNAdose is particularly relevant for people who: have a history of not responding to common drugs (eg. pain medication); are experiencing side-effects from currently prescribed medications; take multiple medications; are planning a hospital visit or surgical operation; proactively manage their health; have children on prescribed medication" (from company website) to provide a report for doctors' use in treating patients that details which medications best match the patient and which should be avoided. 01/22/2014
depression "GeneSight MTHFR determines the alleles at the C677T polymorphism in the MTHFR gene to predict effects on folic acid conversion. An individual's genetic inability to convert folic acid into l-methylfolate has been linked to higher incidence of depression." unspecified "The results of the GeneSight report can help a clinician understand the way a patient's unique genomic makeup may affect certain psychiatric drugs." 01/22/2014
early-stage lung adenocarcinoma "myPlan Lung Cancer is an RNA expression panel of 31 cell-cycle-progression genes, in combination with tumor staging information, to determine a patient's risk of dying from lung cancer within five years." patients with early-stage lung cancer to inform physicians for treatment-making decisions (whether patients should receive surgery alone or more aggressive therapy). 01/22/2014
metabolism, exercise, and energy use (exercise efficacy and weight management) "Pathway Fit® analyzes over 75 genetic markers known to impact metabolism, exercise and energy use within the human body." Unspecified "The results of this test provide educational information to be used between the patient and his or her physician, as an aid to patient management and health." "Pathway Fit may help patients with: weight managment, increased mental and physical performance, maximizing energy, disease prevention. Pathway Fit may help physicians with: improved clinical outcomes, better treatment options for weight loss, improved performance or overall health of patients." 01/22/2014
breast cancer, ovarian cancer Genetic test using next-generation sequencing to simultaneously analyze 14 genes associated with breast cancer risk. Intended for use in individuals meeting any of the following: 1. cases of breast and/or ovarian cancer diagnosed in 3 or more relatives, 2. Previous tests have identified no BRCA1/2 mutations, 3. A variant of unknown significant detected in BRCA1/2 genes, 4. Breast cancer was diagnosed at age <50, 5. Personal of family history of one individual with two or more cancers, at least one is breast/ovarian cancer, 6. Family history of make breast cancer To guide management and predict risk to other family members. Testing may identify increased risk of other cancers. 01/08/2014
Autism spectrum disorders (ASD) An RNA-expression panel of 55 genes: SULF2, UTY, ZNF12, SLA, KIAA0247, ZFP36L2, RMND5A, PTPRE, ARFGEF1, TRIP12, CD9, HNRNPA2B1, MTMR10, RNF145, RBL2, SIRPA, MGAT4A, NCOA6, IVNS1ABP, TBC1D14, ZDHHC17, DNAJC3, ZNF292, PNISR, PNN, NUP50, ZMAT1, ROCK1, KCNE3, SSH2, SNRK, STK38, IFNAR2, ADAM10, DDX42, CAB39, KBTBD11, SERINC3, MAPK14, KLHL2, KIDINS220, CNTRL, TMEM2, COL4A3BP, CREBBP, RPS6KA3, MEGF9, MIR223, ZNF516, MAN2A2, AHNAK, NBEAL2, BOD1L, ZNF548, MYO5A Children; specific ranges of age, cognitive ability, and/or developmental ability not specified Identify children with ASD earlier to start interventions sooner 09/25/2013
Pancreatic cancer Proteomic test that uses matrix assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry (MS) to characterize protein content in serum samples Patients being treated with GlobeImmune's GI-4000 therapy and gemcitabine To select patients who are more likely to benefit from GI-4000 therapy 09/20/2013
Noonan spectrum disorders (also known as RASopathies), including: Noonan syndrome, Noonan-like syndrome disorder with or without juvenile myelomonocytic leukaemia (NSLL), Noonan-like syndrome with loose anagen hair (NSLH), Cardio-facio-cutaneous syndrome (CFC), Costello syndrome, LEOPARD syndrome (multiple lentigines syndrome), Legius syndrome (Neurofibromatosis type 1-like syndrome) Using next generation sequencing technology, screens all coding regions and splice sites of 11 genes and a single exon in an additional gene. Genes included: PTPN11, BRAF, SOS1, RAF1, KRAS, HRAS, NRAS, SHOC2 (exon 1 only), CBL, SPRED1, MAP2K1, MAP2K2 Patients referred for Noonan pre-screen (tests for mutations in exons 3 and 8 of PTPN11 gene) whose pre-screen is negative A comprehensive diagnostic test for all Noonan spectrum disorders that replaces the current multi-stage strategy and reduces the likelihood of missed molecular diagnosis 09/20/2013
Breast cancer, colorectal cancer, ovarian cancer, endometrial cancer, pancreatic cancer, prostate cancer, gastric cancer, and melanoma Multi-gene diagnostic test that will provide increased sensitivity by analyzing 25 genes associated with 8 cancer types. Each test report will include a genetic test result, a clinical risk and healthcare management tool Unspecified "Improve the quality of patient care by empowering healthcare providers with clear and actionable information about their patients' risk of hereditary cancer and the appropriate medical management options available based on that risk" 09/18/2013
Adverse drug reactions An vitro diagnostic test that simultaneously detects and identifies a panel of nucleotide variants, specifically, *1, *2, *3, *4, *5, *6, *7, *8, *9, *10 and *17. Unspecified Aid clinicians in determining therapeutic strategy for the therapeutics that are metabolized by the CYP2C19 gene product, help clinicians individualize drug treatment by selection of appropriate therapies. 09/18/2013
Adverse drug reactions Genotyping assay for CYP2D6 gene product. xTAG® CYP2D6 Kit v3 detects a panel of nucleotide variants including gene rearrangements associated with the deletion (*5) & duplication genotypes Unspecified Identification of patient CYP2D6 genotypes to help clinicians individualize drug treatment by selecting appropriate therapies, improve patient outcomes by ensuring maximum drug efficacy with minimal ADRs 09/18/2013
Breast cancer, ovarian cancer Multiplex Amplification of Specific Targets for Re-Sequencing (MASTR) assay for BRCA 1 and 2 exons for next-gen sequencing Individuals with increased risk for breast, ovarian and/or related cancers Aid in diagnosing, treating, managing breast & ovarian cancer 09/17/2013
Human papilloma virus (HPV) infection associated with cervical, genital and oropharyngeal cancers genotyping and quantification for nineteen high-risk and nine low-risk genotypes using multiplex real time quantitative PCR not specified provide physicians with accurate HPV genotypes, aid in developing personalized treatments 09/17/2013
Endometrial cancer (EC) multi-gene panel (11 genes); exon array CGH, next-generation sequencing (NGS) people in whom family history is suggestive of a predisposition to hereditary EC; people diagnoses with various hereditary cancer syndromes; people in whom genetic testing has been done due to a family history suggestive of a hereditary cancer predisposition and all results have been negative not specified 08/27/2013
Pancreatic cancer multi-gene panel (18 genes); exon array CGH, next-generation sequencing (NGS) people with family history suggestive of predisposition to pancreatic cancer; people diagnosed with various hereditary cancer syndromes; people in whom genetic testing has been done due to a family history suggestive of a hereditary cancer predisposition and all results have been negative not specified 08/27/2013
Colorectal cancer (CRC) multi-gene panel (18 genes); exon array CGH deletion/duplication analysis, MLPA, next-generation sequencing people in whom family history is suggestive of a predisposition to CRC; people diagnosed with various hereditary cancer syndromes; people in whom genetic testing has been done due to a family history suggestive of a hereditary cancer predisposition and all results have been negative not specified 08/27/2013
Hereditary breast and ovarian cancer (HBOC) multi-gene panel (26 genes); exon array CGH deletion/duplication analysis, next-generation sequencing (NGS) people in whom family history is suggestive of a predisposition to HBOC; people diagnosed with various hereditary cancer syndromes; people in whom prior genetic testing has been done, due to a family history suggestive of a hereditary cancer predisposition, and all results have been negative not specified 08/27/2013
Attenuated familial adenomatous polyposis (AFAP), breast cancer, colorectal cancer, endometrial cancer, familial adenomatous polyposis (FAP), ovarian cancer, pancreatic cancer, uterine cancer multi-gene panel (35 genes), exon array CGH deletion/duplication analysis, next-generation sequencing (NGS) people with various hereditary cancer syndromes; people whose family history includes a number of cases of cancer of different types, and the pattern does not fit a specific hereditary cancer syndrome; people in whom some genetic testing has been done, due to a family history suggestive of a hereditary cancer predisposition, and the results have been negative not specified 08/27/2013
Hereditary breast and ovarian cancer (HBOC) BRCA founder mutation testing; BRCA1/2 targeted mutation analysis (BRCA1 c.68_69delAG [also known as 185delAG or 187delAG], c.5266dupC [also known as 5382insC or 5385insC] and BRCA2 c.5946delT [also known as 6174delT]); capillary sequencing women of Ashkenazi Jewish ancestry who have been diagnosed with breast or ovarian cancer verify genetic basis for cancer in families indicative/suggestive of HBOC; determine appropriate screening and treatment; identify at-risk family members 08/27/2013
Hereditary breast and ovarian cancer (HBOC) BRCA1 and BRCA2 aequencing and deletion duplication analysis; capillary sequencing, exon array CGH women verify genetic basis for cancer in families indicative/suggestive of HBOC; determine appropriate screening and treatment; identify at-risk family members 08/27/2013
Breast cancer cytokeratin 19 (CK19) mRNA expression detection using rapid nucleic acid amplification technology, reverse transcriptase loop-mediated isothermal amplification (RT-LAMP) people with early invasive breast cancer who are undergoing breast surgery Detection of sentinel lymph node metastases in breast cancer; detecting cancer cells in armpit lymph nodes 08/12/2013
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
records 1-25
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