Application of Genetic Testing

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Which method is commonly used for CF carrier screening?

Sequencing

Schnekenberg RP, Németh AH

Massively parallel sequencing (correct)

Sanger Sequencing

What is the purpose of diagnostic testing for CF?

To confirm clinical diagnosis (correct)

To reduce the risk of being a carrier

To detect developmental delay/mental retardation

To screen for most common mutations

What is the range of CGG repeats for premutation alleles in Fragile X testing?

5-44

>200

55-200 (correct)

45-54

Why is Southern blotting necessary for detecting the full mutation range in Fragile X testing?

To detect very large full mutation repeats Signup and view all the answers

Which of the following accurately describes the role of genetic testing in medicine?

Genetic testing is primarily used for diagnostic purposes in evaluating patients. Signup and view all the answers

What is the main difference between a screening genetic test and a diagnostic genetic test?

A screening test is used for carrier purposes, while a diagnostic test is used for diagnostic purposes. Signup and view all the answers

What is a limitation of genetic testing?

A negative test result does not necessarily rule out a clinically diagnosed condition. Signup and view all the answers

Which additional testing method would be most appropriate to detect large deletions in the BRCA1 and BRCA2 genes?

Southern blot analysis to look for large deletions Signup and view all the answers

A woman comes for counseling about her risk for breast cancer. Both her mother and her sister were diagnosed with breast and ovarian cancers at an early age. Her sister had sequencing of her BRCA1 and BRCA2 genes and no mutations were detected. You suggest that additional testing of these genes may be needed to detect what type of aberration?

Southern blot analysis to look for large deletions Signup and view all the answers

What type of analysis was performed on the sister's BRCA1 and BRCA2 genes to detect mutations?

RFLP analysis for creation of a new restriction cut site Signup and view all the answers

Which genetic tests are commonly used in genomic medicine?

Cystic Fibrosis, Fragile X syndrome, Factor V and Factor II Signup and view all the answers

Which resource is recommended for genetic testing information?

<a href="http://www.ncbi.nlm.nih.gov/gtr/">http://www.ncbi.nlm.nih.gov/gtr/</a> Signup and view all the answers

What factors determine the counseling needs in genetic testing?

Context and indications for testing Signup and view all the answers

What is the purpose of genetic testing for cystic fibrosis in the given clinical scenario?

To determine the risk of having a child with CF Signup and view all the answers

Which of the following is the best diagnostic method for Prader-Willi syndrome?

Methylation-sensitive PCR Signup and view all the answers

What is the risk of being a carrier for Fragile X syndrome for a female with a family history of intellectual disability?

High Signup and view all the answers

What is the purpose of bisulfite treatment in molecular testing?

To distinguish methylation of cytosines Signup and view all the answers

What is the recommended testing algorithm for Fragile X-related disorders?

Diagnostic testing indicated in any individual with intellectual disability; Carrier testing indicated in any female with family history of intellectual disability Signup and view all the answers

According to the text, what is the most common mutation associated with Cystic Fibrosis?

∆F508 (F508del) Signup and view all the answers

According to the text, what is the recommended test panel for CF carrier screening?

23 mutations Signup and view all the answers

According to the text, what is the residual carrier risk for CF after carrier screening?

1/241 Signup and view all the answers

According to the text, what is the apriori risk of the mother being a carrier for CF?

1/200 Signup and view all the answers