Genetic Diagnosis

Question 1

What criteria are used to access the clinical value of a genetic newborn screening test?

Answer 1

Incidence, Clear benefits, treatment, cost, feasibility

Question 2

What is the difference between genetic screening and genetic testing?

Answer 2

Screening is the testing on a population basis to identify andividuals at risk of developing or of transmitting a specific disorder, while testing is of individuals based on a family history of a disorder

Question 3

What are the types of DNA-based clinical tests?

Answer 3

DNA sequencing, PCR based testing, and Southern blotting

Question 4

What are the biomedical ues of PCR?

Answer 4

Gene mutation detection, infectious organism identification, paternity/identity testing, forensics

Question 5

How is preimplantation diagnoses made?

Answer 5

A single cell is removed from an embryo and the DNA is tested via PCR

Question 6

What testing is done to identify Cystic Fibrosis?

Answer 6

Chloride sweat test

Question 7

What testing is done to diagnose Tay-Sachs?

Answer 7

WBC hexosaminidase A levels

Question 8

What test is done to diagnose PKU?

Answer 8

Blood phenylalanine levels