ライフサイエンスコーパス: genetic test

1 noninvasive method for early identification (genetic testing).

2 ly identified familial MYOC variant (cascade genetic testing).

3 plasma is rapidly becoming a major prenatal genetic test.

4 of sudden death are predictors of a positive genetic test.

5 ent of a regulatory framework for commercial genetic tests.

6 tion tools to improve and complement current genetic tests.

7 , of a cohort of 1032 patients who underwent genetic testing.

8 allenges in personalized communication about genetic testing.

9 of electrophysiological vulnerability), and genetic testing.

10 thalmologists select patients for additional genetic testing.

11 based on clinical criteria with and without genetic testing.

12 ingioma or schwannoma should be referred for genetic testing.

13 es among individuals qualifying for clinical genetic testing.

14 hysiology, histopathology and targeted early genetic testing.

15 ients with aortic disease who have undergone genetic testing.

16 tion and will allow informed decisions about genetic testing.

17 cardiomyopathy has been enhanced by targeted genetic testing.

18 can inform clinicians as to the relevance of genetic testing.

19 e submitted to cardiac screening and cascade genetic testing.

20 Results of clinical assessment and molecular genetic testing.

21 uding fulfillment of clinical guidelines for genetic testing.

22 .2-1.0% of children ascertained for clinical genetic testing.

23 longside BRCA1 and BRCA2 in routine clinical genetic testing.

24 ese panels offer advantages over traditional genetic testing.

25 among healthy individuals confounds clinical genetic testing.

26 een patients and 25 potential LRKD underwent genetic testing.

27 enotypic profile should undergo cardiac TRDN genetic testing.

28 transthoracic echocardiography, and clinical genetic testing.

29 ted BEM and may guide clinical diagnosis and genetic testing.

30 portant to refer these patients for clinical genetic testing.

31 s in CASPER from 2006 to 2015, 174 underwent genetic testing.

32 aphy (SD-OCT), microperimetry, and molecular genetic testing.

33 atients and family members in the context of genetic testing.

34 rotoporphyrin (ePPIX) testing, and molecular genetic testing.

35 individuals for FX premutation status using genetic testing.

36 bstantially increase the diagnostic yield of genetic testing.

37 were advised to undergo, and 15.3% underwent genetic testing.

38 erformance of FH clinical criteria versus FH genetic testing.

39 omprehensive Network criteria have undergone genetic testing.

40 should engage in shared decision making for genetic testing.

41 ene panels that have been the cornerstone of genetic testing.

42 Diagnostic yield and clinical usefulness of genetic testing.

43 ults Six hundred sixty-six patients reported genetic testing.

44 the survey, 35% expressed strong desire for genetic testing, 28% reported discussing testing with a

45 Among 77 patients undergoing genetic testing, 34 had TMA.

46 y for testing, (3) selecting the appropriate genetic test, (4) understanding the complexities of resu

47 way for management, highlighting the role of genetic testing, a detailed pedigree, and refined clinic

48 However, unique features associated with genetic testing affect the interpretation and applicatio

49 Earlier referral for genetic testing affected the clinical phenotype.

50 The results of genetic testing also were recorded.

51 Risk stratification including genetic testing and counseling serves as the basis for s

52 In the future this may be relevant to genetic testing and counselling of patients with PD and

53 lar methods, have important implications for genetic testing and counselling.

54 diction models that include information from genetic testing and environmental risk factors.

55 rt reported to date, will facilitate focused genetic testing and filtering of next generation sequenc

56 nd realistic expectations about the yield of genetic testing and its role in management.

57 ally minorities, express a strong desire for genetic testing and may benefit from discussion to clari

58 The routine applications of genetic testing and preclinical identification of family

59 HCHWA-D mutation carriers diagnosed through genetic testing and recruited through the HCHWA-D patien

60 ents' attending surgeons were surveyed about genetic testing and results management.

61 rate of change in management after standard genetic testing and STATseq.

62 rapidly evolving area of direct-to-consumer genetic testing and the current utility of clinical exom

63 an cancer exemplifies the potential value of genetic testing and the shortcomings of current pathways

64 ype of a patient has been developed to guide genetic testing and to align genetic findings with the c

65 Results from panel genetic testing and WGS were compared.

66 center whose diagnosis has been confirmed by genetic testing and/or skin biopsy were studied from Mar

67 oided in typical cases that are confirmed by genetic testing, and

68 These data will inform tumor classification, genetic testing, and clinical trial design.

69 cs, clinicopathologic information, tumor and genetic testing, and family history.

70 tors of mutation status included sex, age at genetic testing, and proband and family cancer histories

71 Family members identified by genetic testing are candidates for preventive thyroidect

72 Furthermore, costs associated with genetic testing are highly variable and dependent on lab

73 Guidelines for cancer genetic testing based on family history may miss clinica

74 from our cohort were identified by targeted genetic testing because their phenotype was suggestive f

75 als prospectively referred to the clinic for genetic testing between January 1, 1990, and December 31

76 syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016.

77 Genetic testing by array-comparative genomic hybridizati

78 Predictive genetic testing can facilitate donor evaluation and augm

79 Genetic testing can identify these misclassified patient

80 entifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refi

81 anslation of this research to the clinic via genetic testing can precisely group affected patients ac

82 The identified mutations and associated genetic tests can be used to address both of these issue

83 Patients are now referred for genetic testing closer to their presentation with neonat

84 ng criteria was not associated with positive genetic testing, co-occurring cardiac features, pathogen

85 However, the benefits of genetic testing come with the risk that variants may be

86 Genetic tests confirm that Ctp supports Yorkie-driven ti

87 Genetic testing confirmed pseudodominant inheritance and

88 An array of genetic tests confirmed that many variants of [PSI+] ari

89 reast cancer should be counseled and offered genetic testing, consistent with the National Comprehens

90 Additional diagnostic testing, including genetic testing, contributes to the detection of specifi

91 Moving forwards, genetic testing could enable precision medicine approach

92 e mutation positive did not meet established genetic testing criteria for the gene(s) in which they h

93 Having a cancer family history that met genetic testing criteria of the National Comprehensive C

94 ositive patients did not actually meet these genetic testing criteria.

95 as a result, the costs and risks of routine genetic testing currently outweigh the benefits for pati

96 mily Registry (CCFR) from 1998 through 2007 (genetic testing data updated as of January 2015).

97 Median duration of diabetes at the time of genetic testing decreased from more than 4 years before

98 l to identify families who will benefit from genetic testing, determine the best strategy, and interp

99 ic counseling, most US women undergoing BRCA genetic testing do not receive this clinical service.

100 We propose the introduction of genetic testing early in the diagnostic pathway in child

101 cancer susceptibility, quality assurance in genetic testing, education of oncology professionals, an

102 dergone targeted hypertrophic cardiomyopathy genetic testing (either multigene panel or familial vari

103 and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels.

104 king definition of familial PCA for clinical genetic testing, expanding understanding of genetic cont

105 Georgia and Los Angeles) were surveyed about genetic testing experiences (N = 3,672; response rate, 6

106 Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of

107 Traditional genetic testing focusses on analysis of one or a few gen

108 ctrum of DGUOK deficiency, and provide a new genetic test for a specific cause of idiopathic noncirrh

109 h ADPKD and potential LRKD were referred for genetic testing for ADPKD between April 2010 and October

110 argest series to date evaluating the role of genetic testing for ADPKD in LRKD assessment.

111 Direct genetic testing for ATP7B mutations are increasingly ava

112 ed to undergo genetic testing, or undergoing genetic testing for BC or OC.

113 Purpose Genetic testing for breast cancer risk is evolving rapid

114 es, the threshold widely accepted to justify genetic testing for cancers.

115 Among laboratories experienced in genetic testing for cardiac arrhythmia disorders, there

116 pathic adult onset leukodystrophies and that genetic testing for CSF1R mutations is essential in adul

117 the patterns of use and diagnostic yield of genetic testing for early-life epilepsies.

118 The practice of genetic testing for hereditary breast and/or ovarian can

119 Postmortem genetic testing for heritable cardiovascular (CV) disord

120 imation of all five LS genes and supports LS genetic testing for individuals with scores >/= 2.5%.

121 Genetic testing for inherited eye diseases can be costly

122 Genetic testing for inherited retinal disease is now mor

123 Genetic testing for IQCB1 and avoidance of matings betwe

124 from 1260 individuals who underwent clinical genetic testing for Lynch syndrome from 2012 through 201

125 Genetic testing for melanoma-prone mutation in France, a

126 monstrate the clinical utility of predictive genetic testing for MYOC glaucoma.

127 ur finding has implications for broader BRCA genetic testing for patients with pancreatic ductal aden

128 to aggressive PCA, exploring clinical use of genetic testing for PCA management, genetic testing of A

129 Our findings demonstrated that MYOC cascade genetic testing for POAG allows identification of at-ris

130 Purpose Guidelines are limited for genetic testing for prostate cancer (PCA).

131 CA), we enrolled men and women with positive genetic testing for SCA1, SCA2, SCA3, or SCA6 and with p

132 he Huntington disease), and thus was used in genetic testing for screening individuals at high risk.

133 anticipation of the increasing relevance of genetic testing for the assessment of disease risks, thi

134 hypoglycaemia include use of rapid molecular genetic testing for the disease, application of novel im

135 Since genetic testing for the premutation is resource intensiv

136 ere referred following positive results from genetic testing for the previously identified familial M

137 cancer to determine the utility of germline genetic testing for those with TNBC.

138 Furthermore, genetic testing for VHL is indicated in some individuals

139 Genetic testing for VHL is widely available and will det

140 These results suggest that genetic tests for AMD might be designed to detect common

141 tection would be feasible and cost-efficient genetic tests for OCA in families with similar origin.

142 es) versus those who were examined following genetic testing (Genetic cases).

143 c mutation carriage was defined according to genetic testing guidelines.

144 The rapid expansion of genetic testing has led to increased utilization of clin

145 Increased genetic testing has negatively impacted insurability for

146 BRCA genetic testing has substantial public health impact, ye

147 Advances in MRI and serological and genetic testing have greatly increased accuracy in disti

148 Advances in genetic testing have significantly improved the diagnost

149 pants: patients diagnosed with HCHWA-D using genetic testing; healthy controls age-matched to the HCH

150 Notably, in many cases, genetic testing helped to distinguish stationary from pr

151 naling was observed in peripheral blood, and genetic testing identified a de novo germline mutation i

152 In 20 of 41 participants, panel genetic testing identified variants classified as pathog

153 Genetic testing identifies a pathogenic variant in a sig

154 iagnosed individuals are likely to elect for genetic testing if offered.

155 ASCO released its first statement on genetic testing in 1996 and updated that statement in 20

156 ospective comparison of STATseq and standard genetic testing in a case series from the NICU and PICU

157 To assess the clinical usefulness of genetic testing in a pediatric population with inherited

158 Systematic cascade screening and genetic testing in asymptomatic individuals will lead to

159 The role of genetic testing in cardiac arrest survivors without a de

160 mics (ACMG) jointly published a statement on genetic testing in children and adolescents.

161 ethical, legal, and social issues concerning genetic testing in children.

162 rolemia, is the clearest case for utility of genetic testing in diagnosis and potentially guiding tre

163 Moreover, cascade genetic testing in family members can identify those who

164 Cascade genetic testing in first-degree relatives identified 6 a

165 We propose using the rule of 3 to recommend genetic testing in France and countries with low to mode

166 Predictive genetic testing in Huntington disease (HD) enables thera

167 utations, indications and interpretations of genetic testing in non-BRCA mutations are not well defin

168 , interpretations, and costs associated with genetic testing in patients with breast cancer.

169 Therefore, ophthalmologists should consider genetic testing in patients with these phenotypic charac

170 esigned to outline the major developments in genetic testing in the cardiovascular arena in the past

171 The role of genetic testing in the initial evaluation of these epile

172 selected the 22 oncology drugs with required genetic testing in their labels.

173 Our findings do not support routine CYP2C19 genetic testing in this population.

174 ademic institution to examine the utility of genetic testing in this population.

175 N: These results highlight the importance of genetic testing in this setting in view of the high freq

176 his highlights the importance of considering genetic testing in young patients with dementia and addi

177 ignificances in CPVT-associated genes in WES genetic testing, in the absence of clinical suspicion fo

178 We identified mutations by comprehensive genetic testing including Sanger sequencing, 6q24 methyl

179 Genetic tests indicated that stress-dependent EGFR/MAPK

180 t assay (ELISA) with intermediate threshold (Genetic Testing Institute, Asserachrom), particle gel im

181 icity, 89.9%) were observed for IgG-specific Genetic Testing Institute-ELISA with low threshold.

182 inical laboratories, suggesting that optimal genetic test interpretation occurs in the context of cli

183 Observations: Successfully incorporating genetic testing into clinical practice requires (1) reco

184 Successful integration of genetic testing into clinical practice requires understa

185 ther refine risk prediction by incorporating genetic testing into existing algorithms that are primar

186 Genetic testing is a powerful tool that allows for the d

187 ed therapy for ASDs is logical, and clinical genetic testing is a prerequisite.

188 Genetic testing is a valuable tool for managing inherite

189 particularly in younger donors and molecular genetic testing is advised.

190 However, interpreting results from genetic testing is confounded by the presence of variant

191 , implications, benefits, and limitations of genetic testing is essential to achieve the best possibl

192 can provide guidance while mutation-specific genetic testing is in motion for family members.

193 emia and for cascade screening of relatives, genetic testing is likely to expand to help establish di

194 ble disorder for over 25 years, yet clinical genetic testing is non-diagnostic in >50% of patients, u

195 Genetic testing is recommended in patients at clinically

196 sifications from other clinical and research genetic testing laboratories, as well as with in silico

197 We reviewed patient records at a leading genetic-testing laboratory for occurrences of these vari

198 type-negative patients, broad multiphenotype genetic testing led to higher yields (21% versus 8%; P=0

199 Genetic testing may be helpful in some cases where a typ

200 g provocation, advanced cardiac imaging, and genetic testing may be useful when a cause is not appare

201 al utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and

202 sent study is to provide the first molecular genetic test of the classic endophenotype hypothesis, wh

203 l use of genetic testing for PCA management, genetic testing of African American males, and addressin

204 r rapid, robust, large-scale, cost-effective genetic testing of BRCA1 and BRCA2 and may serve as an e

205 of cancer, should be considered for germline genetic testing of BRCA1 and BRCA2.

206 Genetic testing of CALM1-3 should be pursued for individ

207 tients with breast cancer receiving germline genetic testing of cancer predisposition genes with here

208 ncer, particularly given the debate over the genetic testing of children for cancer susceptibility in

209 Genetic testing of germline DNA is used in patients susp

210 ight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellect

211 ncer susceptibility gene panels for germline genetic testing of patients.

212 Targeted postmortem genetic testing of the 4 major channelopathy-susceptibil

213 Comprehensive genetic testing of the candidate genes is warranted.

214 Genetic testing of the LCT gene revealed homozygosity fo

215 However, genetic testing of the SGLT1 (SLC5A1) gene was negative

216 As DNA sequencing costs decline, genetic testing options have expanded.

217 of the birth outcome was based on diagnostic genetic testing or newborn examination.

218 uncertain significance on hereditary cancer genetic testing (OR, 3.24; 95% CI, 1.09-9.59).

219 ealth professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or

220 Tseq and three (9%) of 32 by use of standard genetic testing (p=0.0002).

221 We developed a rapid, robust, mainstream genetic testing pathway in which testing is undertaken b

222 The mainstream genetic testing pathway we present is effective, efficie

223 e 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial

224 Genetic testing performed in 10 demonstrated 7 patients

225 Genetic testing performed on both siblings showed a muta

226 ialized HCM center between 2002 and 2015 and genetic testing performed were included in this retrospe

227 These 132 pfsSNVs can be used in developing genetic testing pipelines.

228 entous hemagglutinin antibody titers, and by genetic testing (polymerase chain reaction/loop-mediated

229 dicine, including widespread fee-for-service genetic testing, population genetic studies, and contemp

230 While there is an emerging role for germline genetic testing potentially predicting sensitivity to pl

231 iduals without known indication for specific genetic testing, primarily from the United States.

232 Cost is an especially important part of the genetic testing process and point of discussion with pat

233 Genetic testing provides a foundation for transitioning

234 Hospital-based case-control study, including genetic testing, questionnaires, and physical data (Mole

235 Increasing use of genetic testing raises questions about disclosing second

236 Although genetic testing readily identifies those who will be aff

237 nstead of focusing on an individual patient, genetic testing requires consideration of the family as

238 significantly less likely to have a positive genetic testing result compared with those with LVNC and

239 ue ("tumor-normal sequencing") compared with genetic test results based on current guidelines.

240 ing laboratories impede the effective use of genetic test results in clinical medicine.

241 pactful differences in the interpretation of genetic test results occur between laboratories and clin

242 METHODS AND Genetic test results of 467 index patients from apparent

243 nically actionable inherited mutations whose genetic test results would not have been predicted by pu

244 Methods Clinical data and genetic testing results were gathered from 1,191 individ

245 differential diagnosis, pathologic findings, genetic testing results, and diagnosis are discussed.

246 Genetic testing revealed 3 disease-causing mutations.

247 Genetic testing revealed a pathogenic mutation in 159 pa

248 Genetic testing revealed, to our knowledge, a novel fram

249 Unique imaging features, genetic tests, serum studies, and clinical features prov

250 Genetic testing should be advocated in young patients wi

251 Genetic testing should be considered in individuals with

252 to also aid in determining whether familial genetic testing should be considered.

253 Transcriptome analysis combined with genetic tests show that this excessive proliferation dep

254 To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease a

255 evaluation, including clinical demographics, genetic testing, symptom evaluation, neurologic examinat

256 lts provide further evidence that functional genetics tests targeting these genes will be fruitful, l

257 The patient's family pursues genetic testing that shows a "likely pathogenic" variant

258 The addition of genetic testing to autopsy investigation substantially i

259 thological findings on organ biopsy prompted genetic testing to confirm the diagnosis.

260 firmation by biochemical testing, subsequent genetic testing to determine the specific acute hepatic

261 Prenatal genetic testing to diagnose DS in utero, provides the no

262 In order to provide high quality genetic testing to eyeGENE((R))'s enrolled patients whic

263 d-of-care for long-QT syndrome uses clinical genetic testing to identify genetic variants of the KCNQ

264 tory of cancer should be considered for BAP1 genetic testing to identify those individuals who might

265 we use data derived from direct-to-consumer genetic testing to investigate patterns of recombination

266 w of our patients; from affordable and rapid genetic testing to wearable sensors that track a wide ra

267 ta were acquired during follow-up, including genetic testing, to exclude underlying disease.

268 ances in diagnostic imaging, biomarkers, and genetic testing today allow identification of the specif

269 Despite negative genetic testing, two potential LRKD were considered unsu

270 etiology would have remained unknown without genetic testing, underwent some testing.

271 evaluated correlates of a strong desire for genetic testing, unmet need for discussion with a health

272 interpretation of SCN5A nsSNVs for clinical genetic testing using estimated predictive values derive

273 investigations, including, where appropriate genetic testing using next-generation sequencing (NGS).

274 Diagnostic genetic tests using early-onset glaucoma genes are also

275 maries, Symptoms, Anatomical Context, Drugs, Genetic Tests, Variations and Publications.

276 Each genetic test was corrected for effects of variants on th

277 The mean age of patients when they underwent genetic testing was 45+/-17, and they were followed for

278 Between January, 2000, and August, 2013, genetic testing was done in 1020 patients (571 boys, 449

279 Genetic testing was performed at treating physicians' di

280 Genetic testing was performed in 558 consecutive proband

281 Genetic testing was performed in all patients and/or in

282 Genetic testing was performed more often in family membe

283 Genetic testing was performed when a mutation was identi

284 erized based on information available before genetic testing was performed.

285 Genetic testing was performed.

286 of unexplained sudden cardiac death in which genetic testing was performed.

287 Using population genetic tests, we document genes under directional and b

288 investigations and transplant outcomes after genetic testing were collected.

289 Patients who received genetic testing were younger, less likely to be black, a

290 Results of biochemical and genetic tests were explored for association with clinica

291 implications for prognosis and we recommend genetic testing when common causes of coronal synostosis

292 uppressor syndrome and, accordingly, trigger genetic testing, whereas solitary tumors do not.

293 ents, 327 (48.1%) underwent various forms of genetic testing, which identified pathogenic variants in

294 ily history has led to increased reliance on genetic testing, which, in turn, has raised new diagnost

295 It is likely that, in the future, genetic testing will allow physicians to achieve better

296 Clinicians without expertise in genetic testing will benefit from establishing referral

297 nmet need for discussion (failure to discuss genetic testing with a health professional when they had

298 ndividuals reporting a history of discussing genetic testing with a health professional, being advise

299 Genetic testing within the B-other group revealed the pr

300 s, and define additional factors influencing genetic testing yield.