Molecular Genetic Testing for Familial Hypercholesterolemia in The Netherlands: A Stepwise Screening Strategy Enhances the Mutation Detection Rate

2006 ◽  
Vol 10 (2) ◽  
pp. 77-84 ◽  
Author(s):  
M.P. Lombardi ◽  
E.J.W. Redeker ◽  
D.H.M. Van Gent ◽  
K.L. Smeele ◽  
R. Weerdesteijn ◽  
...  
Keyword(s):  
Genetic Testing ◽  
The Netherlands ◽  
Familial Hypercholesterolemia ◽  
Detection Rate ◽  
Mutation Detection ◽  
Molecular Genetic ◽  
Screening Strategy ◽  
Molecular Genetic Testing ◽  
Mutation Detection Rate

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands

2000 ◽  
Vol 57 (2) ◽  
pp. 116-124 ◽  
Author(s):  
M Paola Lombardi ◽  
Egbert Jw Redeker ◽  
Joep C Defesche ◽  
Sylvia Wa Kamerling ◽  
Mieke D Trip ◽  
...  
Keyword(s):  
Genetic Testing ◽  
The Netherlands ◽  
Familial Hypercholesterolemia ◽  
Receptor Gene ◽  
Molecular Genetic ◽  
Ldl Receptor ◽  
Gene Mutations ◽  
Molecular Genetic Testing

Monitoring Standards for Molecular Genetic Testing in the United Kingdom, The Netherlands, and Ireland

2006 ◽  
Vol 10 (3) ◽  
pp. 147-156 ◽  
Author(s):  
Simon C. Ramsden ◽  
Zandra Deans ◽  
David O. Robinson ◽  
Roger Mountford ◽  
Erik A. Sistermans ◽  
...  
Keyword(s):  
United Kingdom ◽  
Genetic Testing ◽  
The Netherlands ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
The United Kingdom

scholarly journals A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

2014 ◽  
Vol 23 (1) ◽  
pp. 29-33 ◽  
Author(s):  
Stephanie S Weinreich ◽  
Astrid Bosma ◽  
Lidewij Henneman ◽  
Tessel Rigter ◽  
Carla MJ Spruijt ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Genetic Testing ◽  
The Netherlands ◽  
Molecular Genetic ◽  
Molecular Genetic Testing

Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate

2005 ◽  
Vol 182 (2) ◽  
pp. 331-340 ◽  
Author(s):  
Colin A. Graham ◽  
Brian P. McIlhatton ◽  
Claire W. Kirk ◽  
E. Diane Beattie ◽  
Kelly Lyttle ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Genetic Screening ◽  
Detection Rate ◽  
Mutation Detection ◽  
Mutation Detection Rate ◽  
Screening Protocol ◽  
Splicing Defects

scholarly journals Retinoblastoma genetics screening and clinical management

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Himika Gupta ◽  
Sivasankar Malaichamy ◽  
Ashwin Mallipatna ◽  
Sakthivel Murugan ◽  
Nallathambi Jeyabalan ◽  
...  
Keyword(s):  
Clinical Management ◽  
Detection Rate ◽  
Mutation Detection ◽  
Gene Mutations ◽  
Disease Recurrence ◽  
Germline Mutations ◽  
Global Studies ◽  
Mutation Detection Rate ◽  
Gene Deletions

Abstract Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored. Methods Fifty children with RB underwent complete clinical examination and appropriate multidisciplinary management. Screening of germline RB1 gene mutations was performed through next-generation sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The mutation and non-mutation groups were compared for clinical parameters especially severity, progression and recurrence. Results Twenty-nine patients had bilateral RB (BLRB) and 21 had unilateral RB (ULRB). The genetic analysis revealed 20 RB1 variations in 29 probands, inclusive of 3 novel mutations, known 16 mutations and heterozygous whole gene deletions. The mutation detection rate (MDR) was 86.2% in BLRB and 19% in ULRB. Associations of disease recurrence (p = 0.021), progression (p = 0.000) and higher percentage of optic nerve invasion, subretinal seeds and high-risk pathological factors were observed in the mutation group. Clinical management was influenced by the presence of germline mutations, particularly while deciding on enucleation, frequency of periodic follow up and radiotherapy. Conclusions We identified novel RB1 mutations, and our mutation detection rate was on par with the previous global studies. In our study, genetic results influenced clinical management and we suggest that it should be an essential and integral component of RB-care in India and elsewhere.

scholarly journals Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 675
Author(s):  
Yoon-Jeon Kim ◽  
You-Na Kim ◽  
Young-Hee Yoon ◽  
Eul-Ju Seo ◽  
Go-Hun Seo ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Detection Rate ◽  
Mutation Detection ◽  
Retinal Disease ◽  
Mutation Detection Rate ◽  
Targeted Next Generation Sequencing ◽  
Initial Symptoms ◽  
Genetic Landscape ◽  
History Of ◽  
Genetic Profiles

We conducted targeted next-generation sequencing (TGS) and/or whole exome sequencing (WES) to assess the genetic profiles of clinically suspected retinitis pigmentosa (RP) in the Korean population. A cohort of 279 unrelated Korean patients with clinically diagnosed RP and available family members underwent molecular analyses using TGS consisting of 88 RP-causing genes and/or WES with clinical variant interpretation. The combined genetic tests (TGS and/or WES) found a mutation in the 44 RP-causing genes and seven inherited retinal disease (IRD)-causing genes, and the total mutation detection rate was 57%. The mutation detection rate was higher in patients who experienced visual deterioration at a younger age (75.4%, age of symptom onset under 10 years) and who had a family history of RP (70.7%). The most common causative genes were EYS (8.2%), USH2A (6.8%), and PDE6B (4.7%), but mutations were dispersed among the 51 RP/IRD genes generally. Meanwhile, the PDE6B mutation was the most common in patients experiencing initial symptoms in their first decade, EYS in their second to third decades, and USH2A in their fifth decades and older. Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmological re-phenotyping.

scholarly journals Diagnosing Paraproteinemic Keratopathy: A Case Report

2021 ◽  
pp. 337-343
Author(s):  
Eugenie Mok ◽  
Ka Wai Kam ◽  
Anthony J. Aldave ◽  
Alvin L. Young
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Testing ◽  
Serum Protein ◽  
Molecular Genetic ◽  
Anterior Segment ◽  
Protein Electrophoresis ◽  
Serum Protein Electrophoresis ◽  
Optical Coherence ◽  
Molecular Genetic Testing ◽  
Corneal Opacities

A 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), serum protein electrophoresis, and molecular genetic testing were performed to evaluate the cause of corneal opacities. Anterior segment optical coherence tomography revealed a band-like, hyperreflective lesion in the Bowman layer and anterior stroma of both corneas. IVCM revealed hyperreflective deposits in the epithelium, anterior stroma, and endothelium. Serum protein electrophoresis identified the presence of paraproteins (immunoglobulin kappa), and molecular genetic testing revealed absence of mutations in the transforming growth factor beta-induced gene (<i>TGFBI</i>) and collagen type XVII alpha 1 gene (<i>COL17A1</i>). The ocular diagnosis of paraproteinemic keratopathy eventually led to a systemic diagnosis of monoclonal gammopathy of undetermined significance by our hematologist/oncologist. Paraproteinemic keratopathy is a rare differential diagnosis in patients with bilateral corneal opacities and therefore may be misdiagnosed as corneal dystrophy or neglected as scars. In patients with bilateral corneal opacities of unknown cause, serological examination, adjunct anterior segment imaging, and molecular genetic testing play a role in establishing the diagnosis.

scholarly journals Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology

2017 ◽  
Vol 141 (10) ◽  
pp. 1342-1393 ◽  
Author(s):  
Daniel A. Arber ◽  
Michael J. Borowitz ◽  
Melissa Cessna ◽  
Joan Etzell ◽  
Kathryn Foucar ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Acute Leukemia ◽  
Lymphoblastic Leukemia ◽  
Molecular Genetic ◽  
Clinical Information ◽  
Molecular Genetic Testing ◽  
Acute Leukemias ◽  
Prognostic Evaluation ◽  
The Public ◽  
American Society

Context.— A complete diagnosis of acute leukemia requires knowledge of clinical information combined with morphologic evaluation, immunophenotyping and karyotype analysis, and often, molecular genetic testing. Although many aspects of the workup for acute leukemia are well accepted, few guidelines have addressed the different aspects of the diagnostic evaluation of samples from patients suspected to have acute leukemia. Objective.— To develop a guideline for treating physicians and pathologists involved in the diagnostic and prognostic evaluation of new acute leukemia samples, including acute lymphoblastic leukemia, acute myeloid leukemia, and acute leukemias of ambiguous lineage. Design.— The College of American Pathologists and the American Society of Hematology convened a panel of experts in hematology and hematopathology to develop recommendations. A systematic evidence review was conducted to address 6 key questions. Recommendations were derived from strength of evidence, feedback received during the public comment period, and expert panel consensus. Results.— Twenty-seven guideline statements were established, which ranged from recommendations on what clinical and laboratory information should be available as part of the diagnostic and prognostic evaluation of acute leukemia samples to what types of testing should be performed routinely, with recommendations on where such testing should be performed and how the results should be reported. Conclusions.— The guideline provides a framework for the multiple steps, including laboratory testing, in the evaluation of acute leukemia samples. Some aspects of the guideline, especially molecular genetic testing in acute leukemia, are rapidly changing with new supportive literature, which will require on-going updates for the guideline to remain relevant.

Sign in / Sign up

Export Citation Format

Share Document