Genetic Counseling Boards Review Questions 2024 (100% Verified with correct answers)

LMNA G608G correct answers A young patient (5yrs) presents for the first time to a new dentist with crowded teeth, making them very hard to clean. In further 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 correct answers 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 correct answers 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 correct answers 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) correct answers For which indication would telehealth service delivery model be inappropriate? Breast cancer Marfan Syndrome Carrier screening