Molecular

Question 1

G1 Specimens and records

What is the rule for family numbering in the lab?

Answer 1

In addition to numerical accession files and alphabetical patient listings, each family studied is assigned a unique code (preferably numeric).

Question 2

G2 General quality control

Should quality of reagents be tested prior to testing?

Answer 2

yes

Question 3

G3 DNA preparation

Excess isolated DNA should be stored at ——short term, and long term should be atored at……(temperaure)

Answer 3

0-5° C, frozen

Question 4

G4 Probe/Primer/Locus Documentation

What are the documents needed for oligo probes or primers?

Answer 4

sequesnce, PCR condition, the size ofamplicon with internal documents eg photo showing the size of insert

Question 5

G5 Assay validation

• Each lab must determine analytical validity for a test, what is it?
• Clinical validity should be done through………..

Answer 5

• sensitivity, specificity, reproducibility
• its own or other published studies

Question 6

G7 PCR Guidlines

In a PCR reaction how do we avoid false positive due to contamination?

Answer 6

• lab design (pre/post PCR sections)
• lab practice (lab coats, gloves,..)
• Reagents and solutions (should be in small aliquats)
• Controls- non template control (NTC) in each assay (1. use the same buffer that rehydrates DNA, 2. carry on a blank sample through isolation)

Question 7

G7 PCR Guidlines

What controls should be used in a PCR assay?

Answer 7

NTC (no DNA)- all assays
Size standard- all assays
Negative control (no mutation)-normal
Positive control (het/hom of the mutation), if more than one mutation > rotate positive control mutations