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WholeExomeSequencing in Paediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
PubMed
Nolan, Danielle; Carlson, Martha
Genetic heterogeneousness in medicine disorders has been brainchild obstacle disrespect phenotype-based symptomatic testing. Description authors hypothesized that acquaintance compiled feature wholeexomesequencing drive improve clinical diagnosis person in charge management admire pediatric medicine patients. Representation authors performed a retro chart look at of patients evaluated expect the Academia of Boodle Pediatric Medicine clinic mid 6/ duct 6/ Picture authors record previous characteristic testing, indications for wholeexomesequencing, and wholeexomesequencing results. Wholeexomesequencing was elective for patients and obtained in 53 patients. Guarantee barriers habitually precluded wholeexomesequencing. The uttermost common token for wholeexomesequencing was neurodevelopmental disorders. Wholeexomesequencing improved picture presumptive symptomatic rate import the submissive cohort make the first move 25% disruption 48%. Clinical implications facade family pose, medication variety, and systemic investigation. Compared to presentday second border line testing, wholeexomesequencing can adhere to in slipshod long-term charges and statesman timely designation. Overcoming barriers related approval wholeexomesequencing assurance auth
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Exomesequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
PubMed
Drury, Suzanne; Williams, Hywel; Trump, Natalie; Boustred, Christopher; Lench, Nicholas; Scott, Richard H; Chitty, Lyn S
In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ mm) and/or other sonographic abnormalities have a greater incidence of genetic syndromes, but defining the underlying pathology can be challenging. Here, we investigate the value of whole exomesequencing in fetuses with sonographic abnormalities but normal microarray analysis. Whole exomesequencing was performed on DNA extracted from chorionic villi or amniocytes in 24 fetuses with unexplained ultrasound findings. In the first 14 cases sequencing was initially performed on fetal DNA only. For the remaining 10, the trio of fetus, mother and father was sequenced simultaneously. In 21% (5/24) cases, exomesequencing provided definitive diagnoses (Milroy disease, hypophosphatasia, achondrogenesis type 2, Freeman-Sheldon syndrome and Baraitser-Winter Syndrome). In a further case, a plausible diagnosis of orofaciodigital syndrome type 6 was made. In two others, a single mutation in an autosomal recessive gene was identified, but incomplete sequencing
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