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Advanced Search Results For "GENETIC testing"

1 - 10 of 97,769 results for
 "GENETIC testing"
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Mainstream germline genetic testing for patients with epithelial ovarian cancer leads to higher testing rates and a reduction in genetics-related healthcare costs from a healthcare payer perspective.

Publication Type: Academic Journal

Source(s): Gynecologic oncology [Gynecol Oncol] 2022 Oct; Vol. 167 (1), pp. 115-122. Date of Electronic Publication: 2022 Aug 26.

Abstract: Objective: Germline genetic testing is increasingly offered to patients with epithelial ovarian cancer by non-genetic healthcare professionals, so called mainstream genetic testing. The aim of this study was to evaluate the effect of implementing a mai...

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[National survey of presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases-system development for after the establishment of therapies].

Publication Type: Academic Journal

Source(s): Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2022 Oct 22; Vol. 62 (10), pp. 773-780. Date of Electronic Publication: 2022 Sep 30.

Abstract: As therapies for hereditary neuromuscular diseases are developed, the need for presymptomatic genetic testing and genetic counseling for early treatment is expected to increase. In Japan, there is no uniformly recommended protocol for presymptomatic ge...

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Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes.

Publication Type: Academic Journal

Source(s): Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2367-2379. Date of Electronic Publication: 2022 Sep 16.

Abstract: Purpose: As research on hereditary hematologic malignancy syndromes (HHMS) are accumulating, cancer genetics clinics are identifying more adult hematology patients with an inherited component to their disease. However, investigations for HHMS are compl...

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Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing.

Publication Type: Academic Journal

Source(s): Congenital anomalies [Congenit Anom (Kyoto)] 2022 Sep; Vol. 62 (5), pp. 188-197. Date of Electronic Publication: 2022 Jun 21.

Abstract: Maternal-fetal medicine (FM) is currently a highly demanding branch and is gaining importance as increasing number of genetic disorders rise in incidence. Prenatal testing helps to detect such abnormalities that could affect the health status of the de...

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Secondary genomic findings in the 2020 China Neonatal Genomes Project participants.

Publication Type: Academic Journal

Source(s): World journal of pediatrics : WJP [World J Pediatr] 2022 Oct; Vol. 18 (10), pp. 687-694. Date of Electronic Publication: 2022 Jun 21.

Abstract: Background: During next generation sequencing (NGS) data interpretation in critically ill newborns, there is a potential for recognizing and reporting secondary findings (SFs). Early awareness of SFs may provide clues for disease prevention. In this st...

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Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project.

Publication Type: Academic Journal

Source(s): The Journal of molecular diagnostics : JMD [J Mol Diagn] 2022 Oct; Vol. 24 (10), pp. 1079-1088. Date of Electronic Publication: 2022 Aug 02.

Abstract: Pharmacogenetic testing is increasingly provided by clinical and research laboratories; however, only a limited number of quality control and reference materials are currently available for many of the TPMT and NUDT15 variants included in clinical test...

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Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium).

Publication Type: Academic Journal

Source(s): European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Nov; Vol. 30 (11), pp. 1255-1261. Date of Electronic Publication: 2022 Mar 18.

Abstract: Through carrier screening couples at-risk of conceiving a child with an autosomal recessive or X-linked condition can be identified prior to conception. The aim of this study was to assess knowledge, attitudes and preferences regarding reproductive gen...

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Genome interpretation using in silico predictors of variant impact.

Publication Type: Academic Journal

Source(s): Human genetics [Hum Genet] 2022 Oct; Vol. 141 (10), pp. 1549-1577. Date of Electronic Publication: 2022 Apr 30.

Abstract: Estimating the effects of variants found in disease driver genes opens the door to personalized therapeutic opportunities. Clinical associations and laboratory experiments can only characterize a tiny fraction of all the available variants, leaving the...

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A commentary on actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

Publication Type: Editorial & Opinion

Source(s): Journal of human genetics [J Hum Genet] 2022 Oct; Vol. 67 (10), pp. 617-619. Date of Electronic Publication: 2022 May 09.

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Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.

Publication Type: Academic Journal

Source(s): Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1758. Date of Electronic Publication: 2021 Aug 23.

Authors:

Abstract: Background: The collagen alpha-1(X) chain gene (COL10A1) is a known causative gene for Schmid metaphyseal chondrodysplasia (SMCD). This study clinically examined a Chinese family (n = 42) for SMCD and inheritance pattern. Fifteen individuals were diagn...

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