Genetic Testing Methods Quiz

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18 Questions

What technology has been developed to screen all chromosomes in a single reaction?

Array Comparative Genome Hybridisation (aCGH)

Which technique can simultaneously detect aneuploidies, deletions, and duplications?

SNP Arrays

What method involves mixing denatured DNA from two sources, allowing the identification of specific DNA sequences in one source?

Fluorescence in situ hybridisation (FISH)

What does a 1:1 ratio of test DNA and control DNA indicate in the Array-CGH test?

Disomy

Which method allows simultaneous analysis of expression profiles of thousands of genes?

Expression Microarray

In the SNP Arrays, what is indicated by a gain of test DNA relative to controls in a 3:2 ratio?

Trisomy

In microarray analysis of gene expression, what does a brighter spot indicate?

Higher gene expression

What method involves complete cDNA from a sample being labeled with a fluorescent dye and washed over an array?

Hybridisation methods

Which technology can scan a complete genome for imbalances according to the information provided?

NGS (Next-Generation Sequencing)

Which technique enables the detection of a cluster of complementary DNA sequences within each dot?

Dot blot

What does a gain of test DNA relative to controls in a 3:2 ratio indicate?

Trisomy

What allows the binding of complementary DNAs in a sample to their matched probes followed by laser excitation and scanning?

Microarray

What is the main feature of Non-Invasive Prenatal Testing (NIPT)?

It analyzes fetal DNA found in maternal plasma.

In the context of NIPT, what does a result indicating 'increased risk' suggest about the fetus?

The fetus might have a rare trisomy that most miscarry before 10-12 weeks.

What is the primary purpose of RT-PCR (Reverse Transcriptase-Polymerase Chain Reaction)?

To measure the amount of RNA produced by a gene in a cell.

What is the main application of NGS (Next-Generation Sequencing) in reproductive biology?

To analyze maternal plasma DNA for fetal genetic information.

What does Real-time PCR primarily focus on in molecular analysis?

Assessing the activity of a gene based on RNA transcripts.

How does Transcriptomics differ from routine genetic sequencing?

Transcriptomics involves assessing gene expression through RNA transcripts.

Test your knowledge on genetic testing methods used to determine de novo or inherited mutations. Includes interpreting gel electrophoresis results and techniques for sex determination through PCR and gel electrophoresis. Images courtesy of Biorender and Fertility Ass... included.

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