- For Each Of The Patients Described Below Indicate Whether A Single Gene Sequencing Test Fish Test Gene Panel Or Exom 1 (44.88 KiB) Viewed 31 times
- For Each Of The Patients Described Below Indicate Whether A Single Gene Sequencing Test Fish Test Gene Panel Or Exom 2 (44.88 KiB) Viewed 31 times
- For Each Of The Patients Described Below Indicate Whether A Single Gene Sequencing Test Fish Test Gene Panel Or Exom 3 (36.48 KiB) Viewed 31 times
- For Each Of The Patients Described Below Indicate Whether A Single Gene Sequencing Test Fish Test Gene Panel Or Exom 4 (36.48 KiB) Viewed 31 times
exome sequensing
FISH
gene panel
Single gene sequencing
For each of the patients described below, indicate whether a single gene sequencing test, FISH test, gene panel, or exome sequencing would be the most appropriate first step. Please remember to select the most targeted test that would be likely to yield an answer. Patient Types of Test Select an option A patient presents with signs and symptoms that suggest a possible diagnosis of a genetic condition that is typically caused by deletion of a chromosomal region containing a number of genes. Select an option A patient presents with signs and symptoms that suggest a possible diagnosis of a genetic condition that is most often caused by an SNV in one of about a dozen genes. Select an option A patient presents with signs and symptoms that suggest a possible diagnosis of a genetic condition that is typically caused by an SNV in a particular gene. Select an option A patient presents with general intellectual and developmental delays. Submit You have user of 2 cihmirciana
DiGeorge syndrome is an autosomal dominant genetic condition. Individuals with DiGeorge syndrome can have variety of signs and symptoms, including a cleft palate, distinctive facial features, cardiac defects, and immune deficiencies. As with many genetic conditions, there is a great deal of variation in the signs and symptoms of DiGeorge syndrome, so a suspected case must be confirmed with a genetic test. DiGeorge syndrome is often diagnosed using a FISH assay, but can also be detected by a chromosomal microarray. Below are simulated images depicting the results of both assays for a patient with DiGeorge syndrome. FISH Chromosome 22 Chromosomal microarray Chromosome 22 DNA copy number لما LEN SOUP