The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth
-
Federica Cariati
und
Rossella Tomaiuolo
Abstract
Background:
The development of technologies that detect monogenic diseases in embryonic and fetal samples are opening novel diagnostic possibilities for preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) thereby changing laboratory practice. Molecular diagnostic laboratories use different workflows for PND depending on the disease, type of biological sample, the presence of one or more known mutations, and the availability of the proband. Paternity verification and contamination analysis are also performed. The aim of this study was to test the efficacy of a single workflow designed to optimize the molecular diagnosis of monogenic disease in families at-risk of transmitting a genetic alteration.
Methods:
We used this strategy, which we designated “SEeMORE strategy” (Single-tube Electrophoresis analysis-based genotyping to detect MOnogenic diseases Rapidly and Effectively from conception to birth). It consists of a multiplex PCR that simultaneously carries out linkage analysis, direct analysis, maternal contamination and parenthood testing. We analyzed samples from previously diagnosed families for PND (cystic fibrosis or Duchenne muscular dystrophy) without, however, knowing the results.
Results:
The results obtained with the SEeMORE strategy concurred with those obtained with traditional PND. In addition, this strategy has several advantages: (i) use of one or a few cells; (ii) reduction of the procedure to 1 day; and (iii) a reduction of at least 2–3-fold of the analytic cost.
Conclusions:
The SEeMORE strategy is effective for the molecular diagnosis of monogenic diseases, irrespective of the amount of starting material and of the disease mutation, and can be used for PND and PGD.
Acknowledgments
The authors thank Jean Ann Gilder (Scientific Communication srl., Naples, Italy) for editing the text, and Vittorio Lucignano, CEINGE-Biotecnologie Avanzate, for technical assistance.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and have approved submission.
Research Funding: This work was supported by POR CAMPANIA FSE 2007–2013 Project DIAINTECH, Italy (to F.S.); Società Italiana di Biochimica Clinica e Biologia Molecolare Clinica (grant 08/14) (to R.T.); and Consorzio Interuniversitario Biotecnologie (grant 11/15) (to F.C.).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2018 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Method comparison – a practical approach based on error identification
- Review
- Neutrophil gelatinase-associated lipocalin as a risk marker in cardiovascular disease
- Mini Reviews
- α-Defensin point-of-care test for diagnosis of prosthetic joint infections: neglected role of laboratory and clinical pathologists
- The diagnostic accuracy of biomarkers for diagnosis of primary biliary cholangitis (PBC) in anti-mitochondrial antibody (AMA)-negative PBC patients: a review of literature
- Opinion Paper
- New issues on measurement of B-type natriuretic peptides
- Genetics and Molecular Diagnostics
- The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth
- General Clinical Chemistry and Laboratory Medicine
- Determination of serum calcium levels by 42Ca isotope dilution inductively coupled plasma mass spectrometry
- The effects of dry ice exposure on plasma pH and coagulation analyses
- Placental protein-13 (PP13) in combination with PAPP-A and free leptin index (fLI) in first trimester maternal serum screening for severe and early preeclampsia
- Circulating CD89-IgA complex does not predict deterioration of kidney function in Korean patients with IgA nephropathy
- Performance analysis of automated evaluation of Crithidia luciliae-based indirect immunofluorescence tests in a routine setting – strengths and weaknesses
- Performance of automated digital cell imaging analyzer Sysmex DI-60
- Reference Values and Biological Variations
- Determination of reference intervals for urinary steroid profiling using a newly validated GC-MS/MS method
- Reference intervals and longitudinal changes in copeptin and MR-proADM concentrations during pregnancy
- Definition of the upper reference limit of glycated albumin in blood donors from Italy
- Reference values of fecal calgranulin C (S100A12) in school aged children and adolescents
- Processing-independent proANP measurement for low concentrations in plasma: reference intervals and effect of body mass index and plasma glucose
- Cancer Diagnostics
- Cancer sniffer dogs: how can we translate this peculiarity in laboratory medicine? Results of a pilot study on gastrointestinal cancers
- Cardiovascular Diseases
- NGAL and MMP-9/NGAL as biomarkers of plaque vulnerability and targets of statins in patients with carotid atherosclerosis
- Analytical evaluation of the new Beckman Coulter Access high sensitivity cardiac troponin I immunoassay
- Infectious Diseases
- Analytical evaluation of the performances of Diazyme and BRAHMS procalcitonin applied to Roche Cobas in comparison with BRAHMS PCT-sensitive Kryptor
- Effects of procalcitonin testing on antibiotic use and clinical outcomes in patients with upper respiratory tract infections. An individual patient data meta-analysis
- Acknowledgment
- Letters to the Editor
- Handling the altered test results of hemolyzed samples. Recommendations of the Quality, Management, Safety and Evidence Committee (CCGSE) of the Spanish Association of Medical Biopathology and Laboratory Medicine (AEBM-ML)
- Reply to: Analytical evaluation of the performances of Diazyme and BRAHMS procalcitonin applied to Roche Cobas in comparison with BRAHMS PCT-sensitive Kryptor
- Excessive hypercortisolemia due to ectopic Cushing’s syndrome requiring extending the reportable range for plasma cortisol for management
- Heavy chain disease: our experience
- An abnormal elevation of serum CA72-4 due to taking colchicine
- Rivaroxaban non-responders: do plasma measurements have a place?
- Next generation sequencing and immuno-histochemistry profiling identify numerous biomarkers for personalized therapy of endometrioid endometrial carcinoma
- A multicenter effort to improve comparability of vitamin B6 assays in whole blood
- PR3-anti-neutrophil cytoplasmic antibodies (ANCA) in ulcerative colitis
Artikel in diesem Heft
- Frontmatter
- Editorial
- Method comparison – a practical approach based on error identification
- Review
- Neutrophil gelatinase-associated lipocalin as a risk marker in cardiovascular disease
- Mini Reviews
- α-Defensin point-of-care test for diagnosis of prosthetic joint infections: neglected role of laboratory and clinical pathologists
- The diagnostic accuracy of biomarkers for diagnosis of primary biliary cholangitis (PBC) in anti-mitochondrial antibody (AMA)-negative PBC patients: a review of literature
- Opinion Paper
- New issues on measurement of B-type natriuretic peptides
- Genetics and Molecular Diagnostics
- The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth
- General Clinical Chemistry and Laboratory Medicine
- Determination of serum calcium levels by 42Ca isotope dilution inductively coupled plasma mass spectrometry
- The effects of dry ice exposure on plasma pH and coagulation analyses
- Placental protein-13 (PP13) in combination with PAPP-A and free leptin index (fLI) in first trimester maternal serum screening for severe and early preeclampsia
- Circulating CD89-IgA complex does not predict deterioration of kidney function in Korean patients with IgA nephropathy
- Performance analysis of automated evaluation of Crithidia luciliae-based indirect immunofluorescence tests in a routine setting – strengths and weaknesses
- Performance of automated digital cell imaging analyzer Sysmex DI-60
- Reference Values and Biological Variations
- Determination of reference intervals for urinary steroid profiling using a newly validated GC-MS/MS method
- Reference intervals and longitudinal changes in copeptin and MR-proADM concentrations during pregnancy
- Definition of the upper reference limit of glycated albumin in blood donors from Italy
- Reference values of fecal calgranulin C (S100A12) in school aged children and adolescents
- Processing-independent proANP measurement for low concentrations in plasma: reference intervals and effect of body mass index and plasma glucose
- Cancer Diagnostics
- Cancer sniffer dogs: how can we translate this peculiarity in laboratory medicine? Results of a pilot study on gastrointestinal cancers
- Cardiovascular Diseases
- NGAL and MMP-9/NGAL as biomarkers of plaque vulnerability and targets of statins in patients with carotid atherosclerosis
- Analytical evaluation of the new Beckman Coulter Access high sensitivity cardiac troponin I immunoassay
- Infectious Diseases
- Analytical evaluation of the performances of Diazyme and BRAHMS procalcitonin applied to Roche Cobas in comparison with BRAHMS PCT-sensitive Kryptor
- Effects of procalcitonin testing on antibiotic use and clinical outcomes in patients with upper respiratory tract infections. An individual patient data meta-analysis
- Acknowledgment
- Letters to the Editor
- Handling the altered test results of hemolyzed samples. Recommendations of the Quality, Management, Safety and Evidence Committee (CCGSE) of the Spanish Association of Medical Biopathology and Laboratory Medicine (AEBM-ML)
- Reply to: Analytical evaluation of the performances of Diazyme and BRAHMS procalcitonin applied to Roche Cobas in comparison with BRAHMS PCT-sensitive Kryptor
- Excessive hypercortisolemia due to ectopic Cushing’s syndrome requiring extending the reportable range for plasma cortisol for management
- Heavy chain disease: our experience
- An abnormal elevation of serum CA72-4 due to taking colchicine
- Rivaroxaban non-responders: do plasma measurements have a place?
- Next generation sequencing and immuno-histochemistry profiling identify numerous biomarkers for personalized therapy of endometrioid endometrial carcinoma
- A multicenter effort to improve comparability of vitamin B6 assays in whole blood
- PR3-anti-neutrophil cytoplasmic antibodies (ANCA) in ulcerative colitis
