scholarly journals OP17.08: Prenatal diagnosis using combined qf-PCR and array CGH analysis as a first line test: results from over 1000 consecutive cases

2013 ◽  
Vol 42 (s1) ◽  
pp. 97-97
Author(s):  
F. P. Scott ◽  
K. Murphy ◽  
L. Carey ◽  
W. Greville ◽  
N. Mansfield ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Array Cgh ◽  
Test Results ◽  
First Line ◽  
Line Test

The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader–Willi Syndrome in Thai Patients

2022 ◽  
Author(s):  
Chanita Prapasrat ◽  
Preyaporn Onsod ◽  
Veerawat Korkiatsakul ◽  
Budsaba Rerkamnuaychoke ◽  
Duangrurdee Wattanasirichaigoon ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genetic Disorder ◽  
Cost Effective ◽  
Molecular Techniques ◽  
Prader Willi Syndrome ◽  
Test Results ◽  
First Line ◽  
Line Test ◽  
Clinical Diagnostic Criteria ◽  
Dependent Probe

AbstractPrader–Willi syndrome (PWS) is a genetic disorder caused by the expression disruption of genes on the paternally inherited allele of chromosome 15q11.2-q13. Apart from clinical diagnostic criteria, PWS is confirmed by genetic testing. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is one of the molecular techniques used to analyze this syndrome. This study aimed to evaluate the concordance of the test results of MS-MLPA with conventional techniques in the diagnosis of PWS in Thai patients. Forty leftover specimens from routine genetic testing (MS-PCR and FISH) were tested to obtain MS-MLPA results. By comparison, perfect concordance was shown between the result of MS-MLPA and those of conventional techniques. In conclusion, MS-MLPA is an accurate and cost-effective assay that can be used to confirm PWS diagnosis with explicit deletion of affected genes.

A simplified strategy for testing thyroid function.

1989 ◽  
Vol 35 (5) ◽  
pp. 828-830 ◽  
Author(s):  
J M Beaman ◽  
J S Woodhead
Keyword(s):  
Thyroid Function ◽  
Simultaneous Measurement ◽  
Diagnostic Efficiency ◽  
Test Results ◽  
First Line ◽  
Current Strategy ◽  
New Strategy ◽  
Thyroid Function Testing ◽  
Line Test ◽  
Function Testing

Abstract We assessed a new strategy for thyroid-function testing that involves simultaneous measurement of free thyroxin and thyrotropin, both in singletons, with chemiluminescent assays. Using our current strategy of measuring free thyroxin as a first-line test with selected back-up testing, the results show that, of 810 patients without previous thyroid disease, 445 received back-up tests. Of these, 345 were euthyroid, whereas 63 classified as euthyroid and not selected for further testing in fact had abnormal back-up test results. Evidently the simultaneous measurement of free thyroxin and thyrotropin with the "Magic Lite" technology greatly improves diagnostic efficiency compared with this current strategy.

scholarly journals Colorectal Cancer Biomarkers in the Era of Personalized Medicine

2019 ◽  
Vol 9 (1) ◽  
pp. 3 ◽  
Author(s):  
Jai Patel ◽  
Mei Fong ◽  
Megan Jagosky
Keyword(s):  
Colorectal Cancer ◽  
Metastatic Colorectal Cancer ◽  
Therapy Response ◽  
Dose Intensity ◽  
Cancer Biomarkers ◽  
Clinical Implications ◽  
Test Results ◽  
First Line ◽  
Genomic Markers ◽  
Generation Sequencing

The 5-year survival probability for patients with metastatic colorectal cancer has not drastically changed over the last several years, nor has the backbone chemotherapy in first-line disease. Nevertheless, newer targeted therapies and immunotherapies have been approved primarily in the refractory setting, which appears to benefit a small proportion of patients. Until recently, rat sarcoma (RAS) mutations remained the only genomic biomarker to assist with therapy selection in metastatic colorectal cancer. Next generation sequencing has unveiled many more potentially powerful predictive genomic markers of therapy response. Importantly, there are also clinical and physiologic predictive or prognostic biomarkers, such as tumor sidedness. Variations in germline pharmacogenomic biomarkers have demonstrated usefulness in determining response or risk of toxicity, which can be critical in defining dose intensity. This review outlines such biomarkers and summarizes their clinical implications on the treatment of colorectal cancer. It is critical that clinicians understand which biomarkers are clinically validated for use in practice and how to act on such test results.

FIRST-LINE TEST OF THYROID FUNCTION

The Lancet ◽  
1984 ◽  
Vol 324 (8408) ◽  
pp. 923
Author(s):  
K.R. Allen ◽  
D. Watson
Keyword(s):  
Thyroid Function ◽  
First Line ◽  
Line Test

569: Array CGH in prenatal diagnosis of fetuses with sonographic anomalies

2007 ◽  
Vol 197 (6) ◽  
pp. S165
Author(s):  
Linda Kleeman ◽  
Lisa G. Shaffer ◽  
Janet M. Cowan ◽  
Eugene Pergament ◽  
Sabrina D. Craigo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Array Cgh
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