genetic testing
Genetic testing vs microforceps biopsy in pancreatic cysts: Systematic review and meta-analysis
... cysts. Genetic testing is promising, but with current diagnostic limitations, significant costs, logistic difficulties in preserving material for future analysis, and technical complexity, its generalized ...
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Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.
... of genetic testing and the relative importance of test results to treatment decisions ...of genetic testing ...of genetic tests for fetal abnormalities and for cancer [13, ...about ...
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Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound
... Among all 140 cases with a positive genetic testing result, only one woman chose to continue her pregnancy, and the rest of them chose to induce labor. The fetus was diagnosed with trisomy 18 syndrome, ...
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Factors Motivating Individuals to Consider Genetic Testing for Type 2 Diabetes Risk Prediction.
... in genetic testing for type 2 diabetes (T2D) risk prediction in the general ...utilizing genetic testing to predict future risk of ...in genetic testing for T2D (52%) and 81% ...
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Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies
... In the approach presented here, an estimated cost of genetic testing that reflects key components of the analysis based on direct (e.g., blood sampling, purchase of raw ma- terials and supplies, hired ...
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Paragangliomas/pheochromocytomas: clinically oriented genetic testing
... Although genetic testing studies have been able to identify mutations in virtually every VHL-affected family, diagnosis is still challenging in up to 20% of affected kindreds in which a de novo mutation ...
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Genetic testing and risk interpretation
... of genetic testing and counseling is the provision of personal lifetime ...undergone genetic testing or had cancer and 207 women who had undergone genetic testing or had ...
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Arq Bras Endocrinol Metab vol.51 número9
... Figure 1. A) Pedigree of the kindred with familial pheochro- mocytomas caused by mutations in the VHL gene. The index patients II-1 and II-2 presented with bilateral pheochromocy- tomas. After genetic ...
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In their own words: treating very young BRCA1/2 mutation-positive women with care and caution.
... Data from 32 women aged 21–27 (mean age = 23.2) were included in the current analysis. All were confirmed BRCA1 (n = 19) or BRCA2 (n = 13) mutation carriers. At the time of initial data collection, 13 women were single, ...
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Identi fication of a novel UMOD mutation (c.163G4A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease
... nephritis, hyperuricemia, gout, and, occasionally, renal cysts (19–21). More than 100 mutations in the UMOD gene have been described; the majority of reported UMOD mutations cluster in exons 4 (480%) and 5 (411%), ...
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Dement. neuropsychol. vol.9 número4
... were located in exon 4 and 85.8% in exons 2 to 6. No mutation was identiied in 5 (4%) patients, indicating that false-negative results in genetic testing may also occur. he researchers suggested that highly ...
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IMPACTO PSICOSOCIAL DE PRUEBAS GENÉTICAS PREDICTIVAS EN ENFERMEDADES NEURODEGENERATIVAS DE INICIO TARDÍO
... predictive genetic testing program for spinocerebellar ataxia type 2 (SCA2) in Cuba, which has been structured along the international guidelines for Huntington ...before testing and 1 week after ...
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Repositorio ISMT: Psychological aspects of pre-symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I
... a genetic lab that offers diagnostic, pre-symptomatic and prenatal testing and an outpatient clinic to counsel and follow relatives at risk for hereditary ataxias, FAP- I and Huntington disease ...
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Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
... Definite diagnosis of BBGD requires the detection of pathogenic mutations in the SLC19A3 gene. Low CSF levels of free thiamine can be used as a screening tool to select patients for genetic testing and may ...
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Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.
... gene testing was performed in cases where tumors showed loss of protein expression and unmethylated ...locus. Genetic testing for PMS2 was performed only in those patients with tumors showing loss of ...
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Genetic counseling and presymptomatic testing programs for Machado-Joseph disease: lessons from Brazil and Portugal.
... Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 ...Presymptomatic testing (PST) can be used to identify persons ...
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The dawning era of personalized medicine exposes a gap in medical education.
... with genetic conditions, 64% of respondents reported receiving no genetics education materials from the health care provider they named most important in the management of their condition ...a genetic ...
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Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids
... pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary difuse leukoencephalopathy with ...
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Extending Refusal Testing by Stochastic Refusals for Testing Non-deterministic Systems
... In this paper, , we have proposed an approach for testing s stochastic systems modeled in Maximality based Stochastic Labeled Transition System (MSLTS). First, we have proposed a stochastic refusals graph for ...
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Hypothesis testing of genetic similarity based on RAPD data using Mantel tests and model matrices
... To illustrate the procedures described above, we ana- lyzed the RAPD data of 20 species of frogs collected in cen- tral Brazil. Specimens were collected at two sites in the state of Goiás (Florestal Experimental Station ...
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