Notes in 03 Basic Principles of Genetic Testing

To Subscribe, use this Key

Status	Last Update	Fields
Published	09/26/2023	What are examples of genetic variants that change 1 or a few nucleotides?{{c1::sickle cell (missense mutation), achondroplasia (GOF SNV), hy…
Published	10/03/2023	What factors affect pre-test probability of a genetic test?{{c1::clinical features}}{{c1::family Hx}}{{c1::prior family member testing & results}}
Published	09/28/2023	Types of Genetic VariantsSNV (Single nucleotide variant): change in {{c1::a single nt}}Indel: {{c2::Insertion/deletion variant (<50 nt)}}Structural…
Published	09/28/2023	Choosing a Genetic TestFactors to consider:{{c1::scale: what is the size of the variant?}}{{c1::location: where is the variant (coding region? particu…
Published	09/28/2023	Linking variant type to test typeSNVs and Indels are testable by:{{c1::whole exome sequencing}}{{c1::gene panels}}
Published	09/28/2023	Linking variant type to test typeCopy number variants (CNV) can be tested with:{{c1::chromosomal microarray}}
Published	09/28/2023	Pretest CounselingRole is to discuss {{c1::possible results of genetic testing}}
Published	09/28/2023	Beckwith-Wiedemann Syndrome (BWS)Due to an {{c1::imprinting}} error where both copies of a gene get expressed
Published	09/28/2023	Achondroplasia, hypochondroplasia (HYP), Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysp…
Published	09/28/2023	Chromosomal microarrays are good at detecting {{c1::copy number}} variants2 common types of chromosomal microarrays:{{c2::array comparative genomic hy…
Published	09/28/2023	Chromosomal MicroarraysSNP-arrays can detect {{c1::consanguinity (copy neutral)::chromosomal disorder}}, {{c1::uniparental disomy (copy neutral)::chro…
Published	09/28/2023	Genome vs. Exome SequencingGenome sequencing: {{c1::determines the complete DNA sequence of an individual's entire genome (both exons and introns…
Published	09/28/2023	Genome vs. Exome SequencingBoth forms of sequencing are good for detecting {{c1::SNVs}} and {{c1::indels}} but not {{c1::copy number variants (CNVs)}}
Status	Last Update	Fields