What could a marker-based genetic test diagnose?
Duchenne or Becker Dystrophy
What could a serum amino acid-based genetic test diagnose?
What could a cholesterol-based genetic test diagnose?
How is WAGR diagnosed?
chromosome analysis, FISH (for the WAGR locus), microarray
What are compared in CMA?
reference DNA to the patient/test DNA
What could a chromosomal-based genetic test diagnose?
What could a DNA sequence-based genetic test diagnose?
What is the second definition of genetic testing?
Examining a fluid or tissue sample (could be DNA and non-DNA) for biochemical, chromosomal, or genetic markers that indicate the presence or absence of disease
How does your last name serve as a genetic test?
identifies your ethnic group and predisposition to diseases or certain risks
What is a limitation for chromosome analysis?
resolution- small insertions/duplications/deletions are hard to discern
What is the best test to start with for Down Syndrome?
pt shows no signs or symptoms- looking for relative risk
What is a Wilms' Tumor?
a nephroblastoma (of the kidney)
What are the probes in CMA?
oligonucleotides containing DNA fragments from the whole genome
What is the first definition of genetic testing?
Analyzing an individual's DNA to determine predisposition to a particular health condition or to confirm diagnosis of a disease (risk or diagnosis)
Where is the WAGR locus?
PAX6 on chromosome 11
What could a urine-organics based genetic test diagnose?
methylmalonic or propionic acidemia
What is a limitation for FISH?
you have to know what area you want to probe- it is a specific test
testing doesn't determine the underlying problem, even if you rule in or exclude diseases and risks
What does an abnormal color/ratio in CMA mean?
a deletion or duplication has occurred
What is an advantage to CMA?
it can detect microdeletions and microduplications
What is the treatment for WAGR?
none- surveillance of genitourinary problems, including cancers
What is the cause of WAGR?
an interstitial deletion of 11p13
test results conclusively give diagnostic or relative risk results based on determination of the underlying problem (mutations, etc)
What does WAGR stand for?
Wilms' Tumor Aniridia Genitourinary malformations + Retardation
What does aCGH stand for?
array comparative genomic hybridization
more than one gene causes multiple mutations for one disease
What could an x-ray based genetic test diagnose?
What could a restriction-site based genetic test diagnose?
What test could be used to diagnose Down Syndrome, if the correct probe is used?