Familial hypocalciuric hypercalcaemia (FHH)Genetic testingNext generation sequencing (NGS)The improved access and affordability of next generation sequencing has facilitated the clinical use of gene panel testing to test concurrently patients for multiple heritable hyperparathyroidism syndromes. However, there...
Aetna considers adenomatous polyposis coli (APC) genetic testing medically necessary for any of the following indications: Members with greater than 10 colonic polyps; or Members with a desmoid tumor, hepatoblastoma, or cribriform-morular variant of papillary thyroid cancer; or Members with first-degre...
The diagnosis is then confirmed by obtaining genetic tests tailored to the clinical and laboratory test abnormalities. The current development of diagnostic genetic testing is shedding new light on the phenotypes, thereby improving their management....
Although methods and materials similar or equivalent to those described herein can be used in the practice or testing of the methods and compositions of matter, suitable methods and materials are described below. In addition, the materials, methods, and examples are illustrative only and not ...
G. et al. Adenosine A2(A) receptor gene polymorphism (1976C>T) affects coronary flow reserve response during vasodilator stress testing in patients with non ischemic-dilated cardiomyopathy. Pharmacogenet. Genom. 21, 469–475 (2011). CAS Google Scholar Sato, M. et al. Association between ...
(FDR) for multiple testing correction, adjustedp-value cut-off = 0.0025, minimum number of overlapped genes = 2, GTEx v7 RNA-Seq expression data. Hypergeometric tests were performed to test if genes of interest are overrepresented in any of the pre-defined gene sets in GO biological...
Elective genomic testing (EGT) provides adoptees with clinical genetic testing options to learn about genetic health risks in the absence of FHH. We assessed adoptees' interests in, motivations for and perceived utility of EGT. Methods Adult adoptees and non-adoptees completed an anonymous, online ...
In this study, genetic testing impacted clinical care in 7 (15%) patients. We suggest that all patients <40years of age, with multi-gland disease, single gland disease refractory to treatment, and a positive family history for pHPT or associated tumors should be considered for genetic ...
about the family's knowledge of their FHH; (3) a 3-generation family history is out of the scope of routine care and alternate methods should be considered; (4) most primary care providers (PCPs) do not feel comfortable ordering, interpreting, and counseling regarding current genetic testing....
For each test, calculated p-values were adjusted for the multiple testing using q-value (Supplementary Table S3). The freely available statistical package R [35] software was used for all statistical analyses. The basic characteristics of all studied polymorphism genotypes are summarized in (Table ...