Elevated levels of leucine and isoleucine are detected by ta…

Elevated levels of leucine and isoleucine are detected by tandem mass spectrometry from a blood sample obtained from a baby within 24 hours of birth.  Subsequently, the baby’s DNA is sequenced to look for pathogenic variants in the branched chain keto-acid dehydrogenase (BCKD) gene. Which of the following terms best describes the BCKD gene sequencing analysis? A Presymptomatic screening B Carrier screening C Prenatal screening D Prenatal diagnostic testing E Newborn diagnostic testing F Newborn screening G Carrier testing H Presymptomatic testing  

A man affected with X-linked color blindness and his unaffec…

A man affected with X-linked color blindness and his unaffected wife have a color blind daughter who also exhibits short stature, extra folds of skin on her neck and a low hairline. At the age of 15, she has not yet undergone puberty.  If she were affected with an aneuploidy, which of the following options best explains when the non-disjunction event occurred? A Maternal meiosis B Paternal meiosis C Post-fertilization mitosis

Which of the following options best defines negative predict…

Which of the following options best defines negative predictive value? A The proportion of individuals affected with a condition that are correctly identified B The proportion of individuals who are not affected with a condition that are correctly identified C The proportion of individuals who screen positive on a screening test that are truly affected D The proportion of individuals who screen negative on a screening test that are truly unaffected