Notes in Genetic Testing

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Status	Last Update	Fields
Published	09/27/2023	pre-test {{c1::probability}} is influenced by several aspects:- clinical features- family history- prior family member testing & result
Published	09/27/2023	types of genetic variants- SNV: {{c2::single nucleotide variant}}*ex: point mutations- {{c3::indel}}: insertion/deletion variant (<{{c7::50::#}} nt…
Published	09/25/2023	{{c1::Down syndrome}} (Trisomy 21) is a genomic variant (specifically a {{c2::chromosomal}} anomaly) that impacts genomic information at {{c2::chromos…
Published	09/27/2023	{{c1::Beckwith-Wiedemann}} syndrome & {{c3::imprinting}} errors change the genomic information in a way that influences gene {{c2::expre…
Published	09/27/2023	{{c3::Achondroplasia}} is an example of a change in genomic information that influences one or a small number of {{c1::nucleotides}}- single…
Published	09/27/2023	Not all genetic variants are {{c1::pathogenic}} (disease-associated) Select genetic testing based on expected variant type and location (remember the…
Published	09/25/2023	Choose a test based on the {{c1::scale}} and {{c2::location}} of the suspected variant- {{c1::scale}}: what is the size of variant?→ chromosomal …
Published	10/05/2023	Exome sequencing*looks at all genes in DNA (whole exome) or just genes that are related to medical conditions ({{c3::clinical}} exome)- genome space (…
Published	09/27/2023	genetic variant type vs test typeSNVs and indels- testable by whole {{c2::exome}} sequencing & gene panels*SNVs: {{c3::single nucleotide variants}…
Published	10/01/2023	chromosomal microarray (CMA)*two types Comparative Genomic Hybridization (aCGH) array- detects {{c3::copy number variants}} (CNVs) in the form of…
Published	09/27/2023	phenotypes (the clinical picture) may {{c1::evolve}} over timeex: triploidy/monosomy X ←→ Turnery syndrome + triploidyfirst genetic diagnosis is not…
Published	09/27/2023	the {{c1::streetlight}} effect is a type of observational bias that occurs when people only search for something where it is {{c2::easiest}} to look*m…
Status	Last Update	Fields