ライフサイエンスコーパス: genetic test

1 In both instance diagnosis was confirmed by genetic test.

2 er and higher income participants taking the genetic test.

3 ue added by WES following the use of routine genetic tests.

4 mong 114 identified ARRs, 66 (58%) completed genetic testing.

5 o subsequently underwent tumor resection and genetic testing.

6 gnosed as full aneuploid by pre-implantation genetic testing.

7 s a result, several family members underwent genetic testing.

8 s confirmed by a positive skin biopsy and/or genetic testing.

9 onselected consecutive individuals underwent genetic testing.

10 henotype correlation underscore the need for genetic testing.

11 rden of RYR2 VUS encountered during clinical genetic testing.

12 helial Wilms tumour should be offered TRIM28 genetic testing.

13 genic RBM20-variants considered suitable for genetic testing.

14 unseling and, if indicated after counseling, genetic testing.

15 e values (PPV, NPV), according to results of genetic testing.

16 ividuals for clinical research that involves genetic testing.

17 ources for evaluating variants identified by genetic testing.

18 es that performed nearly all germline cancer genetic testing.

19 , legal, cost, and privacy issues related to genetic testing.

20 zed genetic risk evaluation, counseling, and genetic testing.

21 for pancreatic cancer and are candidates for genetic testing.

22 ductive risk, and positive attitudes towards genetic testing.

23 identified and recruited for examination and genetic testing.

24 e predictive values, according to results of genetic testing.

25 xt of phenotype and to extend the utility of genetic testing.

26 atives, in-home-based sample collection, and genetic testing.

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

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

29 individuals for FX premutation status using genetic testing.

30 patients with cardiomyopathy with the use of genetic testing.

31 resonance imaging (MRI), muscle biopsy, and genetic testing.

32 uroimaging, functional neuroimaging, CSF and genetic testing.

33 the discussion around broader access to BRCA genetic testing.

34 phy (ERG), and both microscopy and molecular genetic testing.

35 t the needs of all persons contemplating DTC genetic testing.

36 ntly accurate to be used clinically, without genetic testing.

37 herefore be unlikely to qualify for clinical genetic testing.

38 imaging, with subsequent targeted microscopy/genetic testing.

39 , P<0.001) despite equivalent utilization of genetic testing.

40 ling is already restricting the provision of genetic testing.

41 icient high confidence for use in predictive genetic testing.

42 e porphyria, confirmed by biochemical and/or genetic testing.

43 electrophysiologic assessment, and molecular genetic testing.

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

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

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

47 Next generation sequencing has disrupted genetic testing, allowing far more scope in the tests ap

48 ts along exon 4 have divergent consequences, genetic testing alone may be insufficient for counseling

49 g, information from the clinical history and genetic testing also contribute.

50 erstand the diagnostic yield of rare variant genetic testing among a cohort of SCAD survivors and to

51 Surveys of ARRs at the time of genetic testing and 6 months later demonstrated low leve

52 diagnosis is made, relatives should receive genetic testing and clinical assessment to stratify thei

53 BEST PRACTICE ADVICE 3: Genetic testing and counseling should be considered for

54 relevance of epigenetics, pharmacogenomics, genetic testing and counseling, and their social and cul

55 ity and academic sites experienced in cancer genetic testing and counseling.

56 rizes current best practices with respect to genetic testing and its implications for the management

57 Within the last decade, advances in genetic testing and its increased availability have made

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

59 ividuals with Wilms tumour should be offered genetic testing and particularly, those with epithelial

60 also presents recent updates to the role of genetic testing and polygenic risk scores for the predic

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

62 We examined clinical genetic testing and results among population-based patie

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

64 ributed to advances in genome sequencing and genetic testing and the expanding understanding of the g

65 n the accessibility, cost, and acceptance of genetic testing and the increased identification of path

66 Results from panel genetic testing and WGS were compared.

67 Subjects who had consented for genetic testing and who were of European ancestry from t

68 s associated with positive attitudes towards genetic testing and younger age.

69 Additional genetic tests and fluorescent in situ hybridization stud

70 practices, with 1,235 (34.7%) receiving the genetic test, and 4,242 men were recruited in control pr

71 ts who met inclusion criteria, 333 completed genetic testing, and 80/333 (24%) had a diagnostic genet

72 ion of VUSs, topics covered before and after genetic testing, and clinical recommendations using a hy

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

74 fits of risk assessment, genetic counseling, genetic testing, and interventions are moderate.

75 arms of risk assessment, genetic counseling, genetic testing, and interventions are small to moderate

76 fits of risk assessment, genetic counseling, genetic testing, and interventions are small to none.

77 ical evaluation, multimodal retinal imaging, genetic testing, and molecular modeling.

78 arms of risk assessment, genetic counseling, genetic testing, and risk-reducing interventions.

79 estations suggestive of a diagnosis of CMTC, genetic testing, and visual outcomes after treatment.

80 r familial contribution, which cases warrant genetic testing, and which cases should prompt an evalua

81 or clinical variant interpretation, ordering genetic tests, and communicating results to patients.

82 n the context of emerging direct-to-consumer genetic-testing applications.

83 respondents (61%) expressed high interest in genetic testing as a PLD: age >=35 years (adjusted odds

84 isplaying this phenotype should undergo TRDN genetic testing as TKOS may be a cause for otherwise une

85 line/possible disease at the time of initial genetic testing as well as last follow-up, respectively.

86 lthy individuals would exploit the trend for genetic testing at the time of cancer diagnosis to guide

87 mimics, and detailed advice on metabolic and genetic testing available to the practising neurologist.

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

89 n intervention practices, men were offered a genetic test (based on genotyping of 33 risk-associated

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

91 In clinical care, genetic testing by a physician is accompanied by both pr

92 Results of genetic testing can have a profound effect on clinical m

93 Genetic testing can identify these misclassified patient

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

95 Greater breadth of genetic testing can increase the likelihood of identifyi

96 ased on family cancer history and results of genetic testing can provide a personalized approach to c

97 These observations inform genetic testing, cascade screening, and variant adjudica

98 In the context of genetic testing, clinical utility refers to the ability

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

100 ion of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly throu

101 RC/EC tumors, 45% (15 of 33) did not meet LS genetic testing criteria on the basis of personal/family

102 of pathogenic/likely pathogenic variants at genetic testing decreased over time (57.7% versus 45.6%

103 Genetic testing demonstrated disease causing CFTR mutati

104 Genetic testing demonstrated the variant 2 point mutatio

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

106 For genetic testing, dried blood spots were collected and ni

107 ephropathy about the gene and possibility of genetic testing early in the donor evaluation, well befo

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

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

110 y breast and ovarian cancer (HBOC), consider genetic testing, especially in the setting of aggressive

111 alies, suggesting a benefit for preoperative genetic testing even when genetic abnormalities are not

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

113 Current clinical guidelines for referral for genetic testing failed to identify 6 (26%) patients with

114 ct aimed to test the effect of introducing a genetic test for lifetime risk of prostate cancer in gen

115 l criteria, the kinetics of development, and genetic testing for aneuploidy.

116 re 1731 unrelated HCM patients who underwent genetic testing for at least 1 gene related to an HCM mi

117 Genetic testing for BRCA1, a DNA repair protein, can ide

118 ithelial ovarian cancer should have germline genetic testing for BRCA1/2 and other ovarian cancer sus

119 Purpose Genetic testing for breast cancer risk is evolving rapid

120 Genetic testing for cancer risk has expanded rapidly.

121 Germline genetic testing for cancer susceptibility may be discuss

122 betes variants, indicating the importance of genetic testing for clinically diagnosed T1D.FUNDINGFund

123 Finally, prenatal and parental genetic testing for DHCR7 should be considered before pr

124 Direct-to-consumer (DTC) genetic testing for disease susceptibility is largely do

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

126 Genetic testing for families with hypertrophic cardiomyo

127 Genetic testing for FH provides important prognostic inf

128 Genetic testing for hereditary predisposition to cancer

129 Current guidelines recommend BRCA1 and BRCA2 genetic testing for individuals with a personal or famil

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

131 This article reviews genetic testing for inherited kidney disease in living k

132 testing, full-field electroretinography, and genetic testing for inherited retinal degenerative disea

133 Genetic testing for inherited retinal disease is now mor

134 Apolipoprotein L1 (ApoL1) predictive genetic testing for kidney disease, and its emerging rol

135 This should prompt physicians to conduct genetic testing for LHON in all patients who meet the cl

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

137 established clinical biomarkers and augment genetic testing for patient classification, comorbidity

138 crease significantly the clinical utility of genetic testing for patients with HCM.

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

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

141 on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA1/2 mutation

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

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

144 iagnosis of WM has been clearly defined, and genetic testing for somatic mutation of MYD88L265P is a

145 As a result, there has been a shift from genetic testing for specific inherited cancer syndromes

146 eneration sequencing (NGS) is widely used in genetic testing for the highly sensitive detection of si

147 include a slightly lower survival to date of genetic testing for the older cohorts and that we apply

148 Since genetic testing for the premutation is resource intensiv

149 In typical medical practice, genetic testing for these conditions is based on persona

150 ma and urine thymidine and deoxyuridine, and genetic testing for TYMP variants, confirmed MNGIE.

151 tine risk assessment, genetic counseling, or genetic testing for women whose personal or family histo

152 tine risk assessment, genetic counseling, or genetic testing for women whose personal or family histo

153 eps in the clinical application of NGS-based genetic testing from an informatics perspective.

154 (12) inhibitor on the basis of early CYP2C19 genetic testing (genotype-guided group) or standard trea

155 In 30.2% (n=62), targeted genetic test had a yield of 82.7% compared with 33.6% fo

156 Genetic testing has become an integral component of the

157 are genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paed

158 Clinical genetic testing has exponentially expanded in recent yea

159 Genetic testing has increased the number of variants ide

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

161 s, disease-association studies, and clinical genetic testing have grown increasingly reliant on genom

162 Increasing use of genetic tests have identified many variants of uncertain

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

164 Genetic testing identified 14 out of 40 subjects as havi

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

166 ated features of Adams-Oliver syndrome, with genetic testing identifying a Notch1 mutation in 1 patie

167 Currently, the appropriate genetic test in most cases of dementia is a next-generat

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

169 With the advent of genetic testing in adults, disease-related, structural b

170 article discusses potential indications for genetic testing in an African American patient with chro

171 ies identify RABL3 mutations as a target for genetic testing in cancer families and uncover a mechani

172 ese findings, we envisage a broader role for genetic testing in DCM.

173 Techniques for clinical genetic testing in dementia disorders have advanced rapi

174 Previous studies of genetic testing in epilepsy have not been prospective an

175 This Comment discusses the role of genetic testing in filling this informational gap and th

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

177 enicity and increase the diagnostic yield of genetic testing in HCM.

178 rkflows and illustrates the changing role of genetic testing in modern diagnostic workflows for heter

179 re, we describe the first instance of CANVAS genetic testing in New Zealand Maori and Cook Island Mao

180 Our data highlight the importance of genetic testing in Parkinson's disease patients with age

181 raphy, cardiopulmonary exercise testing, and genetic testing in predicting the outcome of detraining.

182 nd suggests a prominent role of imaging over genetic testing in promoting HCM diagnoses and urges eff

183 ) technologies have changed the landscape of genetic testing in rare diseases.

184 of risk assessment, genetic counseling, and genetic testing in reducing incidence and mortality of B

185 he accuracy and reproducibility of NGS-based genetic testing in the context of rare disease diagnosis

186 eport illustrates the substantial benefit of genetic testing in the family of a patient diagnosed wit

187 e literature and highlight the importance of genetic testing in the relevant clinical context of elec

188 luding whether clinicians should incorporate genetic testing in the screening process for living kidn

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

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

191 ation of patients who underwent HCM-directed genetic testing including at least 1 gene associated wit

192 on advertising for laboratory tests (such as genetic testing) increased from $75.4 million to $82.6 m

193 This article reviews how genetic testing informs treatment and potential risks fo

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

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

196 s providing evidence that introducing an HTS genetic test is a valuable addition to laboratory diagno

197 all, our findings highlight that panel-based genetic testing is a clinically useful test with a high

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

199 Genetic testing is a valuable tool for managing inherite

200 h precision medicine and, more specifically, genetic testing is altering the treatment of breast canc

201 s and precision medicine, direct-to-consumer genetic testing is becoming increasingly popular, and cl

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

203 Background Genetic testing is helpful for diagnosis of hypertrophic

204 Conclusions Genetic testing is helpful in the diagnosis of HCM mimic

205 As a result, comprehensive genetic testing is imperative in patients who meet the c

206 Although genetic testing is important in research, it is not reco

207 Genetic testing is recommended for infants with very-ear

208 Genetic testing is recommended to identify children who

209 will not possess APOL1 high-risk genotypes, genetic testing is unlikely to markedly increase donor d

210 Genetic testing is used in germline and tumor testing, w

211 Genetic testing is used widely for diagnostic, carrier a

212 rospects of making a successful diagnosis by genetic testing, it is important that the full range of

213 However, among men who had a genetic test, knowledge of genetic risk significantly in

214 s associated with positive attitudes towards genetic testing, lower education, higher subjective nume

215 In Huntington's disease (HD), genetic tests make cognitive, motor and brain imaging me

216 valuation with cerebrospinal fluid assays or genetic testing may be considered in atypical dementia c

217 While genetic testing may be the gateway to the future of medi

218 Genetic testing may inform prevention, diagnosis, and tr

219 ical history of the deceased, and results of genetic testing may reveal a diagnosis.

220 henotyping, telomere length assessments, and genetic testing.Measurements and Main Results: Of the 10

221 learning, compared with the current standard genetic testing method, was associated with higher sensi

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

223 nic mutations have been identified in BRIP1, genetic testing more often reveals missense variants, fo

224 colonoscopy use within those not undergoing genetic testing (NGT) and (2) identify factors associate

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

226 clinic, with a clinical diagnosis of HCM and genetic testing of at least 46 cardiomyopathy-associated

227 Genetic counseling and germline genetic testing of cancer predisposition genes should be

228 The indication for genetic testing of CDH1 was given due to the patient's y

229 Hereditary cancer genetic testing of family members should include a discu

230 Conventional genetic testing of individuals with neurodevelopmental p

231 Clinical genetic testing of known hereditary thoracic aortic diss

232 " which could be addressed by greater use of genetic testing of patients seen by cardiologists.

233 A positive genetic test offers a precise molecular diagnosis, can h

234 Peridiagnostic and cascade cancer genetic testing offers an alternative strategy to achiev

235 Until recently, there were no genetic testing options available for multifactorial com

236 story of Huntington's disease but a negative genetic test, or no known family history of Huntington's

237 Genetic testing performed in three patients confirmed hi

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

239 many patients lack overt syndromic features, genetic testing plays an important role in the diagnosti

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

241 s are recommended to be reported in clinical genetic testing practice.

242 Cascade genetic testing provides a method to appropriately focus

243 me is challenging, and patient selection for genetic testing relies on diagnostic criteria, which hav

244 EDS is challenging and patient selection for genetic testing relies on diagnostic criteria, which hav

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

246 phenotypic evaluations in clinical genetics, genetic testing, research and precision medicine.

247 receive either a 'high-risk' or 'protected' genetic test result for obesity via cardiorespiratory ex

248 stem error, she almost didn't learn that her genetic test result had been revised.

249 A positive DTC genetic test result that might change clinical managemen

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

251 Positive genetic testing resulted in utilization of genetically t

252 merging challenges include interpretation of genetic test results and the evaluation, counseling, and

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

254 using genetic variant, but interpretation of genetic test results can be challenging.

255 lity and potential pitfalls of incorporating genetic test results into the care of patients and their

256 cipants have indicated that privacy of their genetic test results is an important concern, particular

257 ird of those with ovarian cancer (30.9%) had genetic test results.

258 well as for the interpretation of ambiguous genetic test results.

259 ific clinical indications; interpretation of genetic test results; and ethical, legal, cost, and priv

260 dative vitreoretinopathy, pedigree analysis, genetic testing, retinal imaging, and anatomic outcomes

261 nts include clinical diagnostic criteria and genetic testing; risk restratification strategies; LDL-c

262 Genetic testing should be advocated in young patients wi

263 Genetic testing should be considered in individuals with

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

265 Genetic testing showed that he had both copies of VNTR B

266 Several startups in the genetic testing space are aiming to empower individuals

267 that is dedicated to visualizing population genetic test statistics at the genomic level is needed.

268 Medalist cohort was highly heterogenous, and genetic testing suggested that several patients would fa

269 ing population of adult patients, widespread genetic testing supporting the diagnosis of cystic fibro

270 further supports its potential as a low-cost genetic test that can be used at the point of care.

271 This study reveals an unmet clinical need of genetic testing that could benefit a significant proport

272 of patients with AF do not recommend routine genetic testing, this rapidly increasing knowledge base

273 general practitioners (GPs) with access to a genetic test to assess lifetime risk of prostate cancer

274 of risk assessment, genetic counseling, and genetic testing to reduce cancer incidence and mortality

275 ed to support or reject ambiguous results of genetic testing, to suggest underlying pathogenic pathwa

276 with prostate cancer and melanoma, germline genetic testing using deep learning, compared with the c

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

278 Our mathematical modeling and genetic tests validate this mechanism of dynamic heterop

279 n at clinic (4.11 versus 1.06), and utilized genetic testing versus biochemical testing (2.47 versus

280 nder mutation and on the clinical diagnosis, genetic test was categorized to either (1) targeted gene

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

282 Genetic testing was negative in 78 subjects, but 45 were

283 Genetic testing was performed at treating physicians' di

284 Genetic testing was performed in all participants.

285 Genetic testing was performed to exclude Y chromosome mi

286 Postmortem genetic testing was undertaken in 24 of 202 (12%).

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

288 ts within RBM20 were considered suitable for genetic testing when they fulfilled the criteria of (1)

289 hase indocyanine green angiography, prompted genetic testing which revealed the c.1171A>G variant in

290 She underwent germline genetic testing, which did not identify a mutation in th

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

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

293 ndogenous fluorophores in the eye along with genetic testing will dramatically improve diagnostic cap

294 This patient was subjected to a genetic test with 80 cancer predisposing genes.

295 test was categorized to either (1) targeted genetic test with targeted mutation test, single-gene te

296 panel for Noonan syndrome, or (2) untargeted genetic test with whole-exome sequencing or whole-genome

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

298 ts choosing to have direct-to-consumer (DTC) genetic testing without involving their clinicians has i

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

300 Postmortem genetic testing yielded pathogenic variants in ACM-relat