Genetic Counseling Boards Review Exam Questions & Answers

Document Content and Description Below

Genetic Counseling Boards Review Exam Questions & Answers-LMNA G608G - A young patient (5yrs) presents for the first time to a new dentist with crowded teeth, making them very hard to clean. In furthe... r exploration of the issue, she learns that the child had delayed eruption of his teeth. The patient's mother also relays that her pediatrician has several times noted how prominent the veins of his scalp are and his short stature. However, she thinks that this is just part of the spectrum seen in their family given that she herself is quite short and has fair skin, making it easier to see her veins. You speak with the dentist who isn't sure whether or not to refer the family. You are most concerned about what mutation: LMNA G1138A LMNA G608G FGFR3 Exon 11 deletion FGFR3 G608G ii, iii - The current prenatal screening test used in your clinic has a sensitivity of 96% and a specificity of 89%. In speaking to representatives from the lab, you learn that they want to adjust their reading of this test by increasing the cutoff levels. Which of the following effects would you expect to see if this change was implemented? i. Increase sensitivity ii. Increase specificity iii. Decrease false positives iv. Decrease false negatives None of the above are reasons that MTHFR testing should be conducted - Which of the following scenarios would MTHFR testing be appropriate? a. Recurrent pregnancy loss b. Thrombophilia, in the presence of negative primary thrombophilia testing c. Open neural tube defect identified on prenatal ultrasound, despite adequate folic acid intake d. Patients about to start a methotrexate chemotherapy regimen e. none of the above c - Genetic drift is an exception of which of the following assumptions of Hardy Weinberg: a. No mutation b. No migration c. Population is infinitely large d. Random mating Marfan Syndrome (utility of testing influenced by physical evaluation) - For which indication would telehealth service delivery model be inappropriate? Breast cancer Marfan Syndrome Carrier screening Cascade testing 1/100 --With incidence of disease in AJ being 1/1000, man's carrier risk is about 1/18 --Woman's risk of being a carrier is 2/3 since her parents are obligate carriers and she is not affected -- ⅔ x ½ x 1/18 x ½ = 1/108 = ~1/100 - A couple is seen for preconception counseling. The woman's brother has Gaucher disease, and she has Ashkenazi Jewish ancestry (Gaucher disease incidence of 1 in 1,000). Before doing any genetic testing, which of the following is closest to the risk of the couple having an affected child? 1/50 1/100 1/150 [Show More]

Last updated: 11 months ago

Preview 1 out of 65 pages