Agiomix offers a range of tests designed to help learn more about unresolved illnesses, rare cases and hereditary diseases through Whole Exome Sequencing tests and Human Exome Sequencing Analysis reports through the products listed below. WholeSeq is a comprehensive clinical grade DNA test that utili...
Additional information is available; seeWhole Exome and Genome Sequencing Information and Test Ordering Guide. Reflex Tests Test IdReporting NameAvailable SeparatelyAlways Performed CULAFAmniotic Fluid Culture/Genetic TestYesNo G226Number of Comparators for WESDXNo, (Bill Only)No ...
Dr. Christian Marshall is leading the hospital's research efforts to evaluate the Ion ProtonTM System for cost- effectiveness in operations, concordance with gene panels, and the yields of whole- exome sequencing in studying complexdisorders like autism.Dr. Christian Marshall...
whole-exome sequencing. Patients presented with a range of phenotypes suggesting potential genetic causes. Approximately 80% were children with neurologic pheno- types. Insurance coverage was similar to that for established genetic tests. We identified 86 mutated alleles that were highly likely to be ...
exome sequencing is a strategy to selectively sequence the coding regions of the genome to identify novel genes associated with rare and common disorders. From: Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013 ...
Intrahepatic cholangiocarcinoma (ICC) is the second most common primary hepatic malignancy after hepatocellular carcinoma, with poor prognosis and limited treatment options. The genomic features of ICC in Chinese patients remain largely unknown. In this study, we perform deep whole-exome sequencing of ...
We then tested whether any of the candidate genes identified by exome sequencing had statistical evidence of association with SLE in the general European population due to the combined effect of all rare variation within each gene (MAF < 1%) (Table2). For this, we used a large and ind...
In this study, SOC referred to the combination of standard genetic tests and diagnostic investigations commonly used in routine clinical practice, such as single-gene panels, multigene panels, chromosomal microarray (CMA), and karyotype. Whole-exome sequencing was not considered part of the standard...
Ravi Kumar Nadella 3,5, Biju Viswanath 3, Patrick F. Sullivan 6,7, The ADBS Consortium *, Sanjeev Jain 3 & Meera Purushottam 3* Whole Exome Sequencing (WES) studies provide important insights into the genetic architecture of serious mental illness (SMI). Ge...
A growing number of druggable targets and national initiatives for precision oncology necessitate broad genomic profiling for many cancer patients. Whole exome sequencing (WES) offers unbiased analysis of the entire coding sequence, segmentation-based de