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The dilemma of diagnostic testing for Prader-Willi syndrome.

ABSTRACT: Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a complete work up, involves at least 2 tests. Here we discuss the commonly used tests currently available and suggest a cost-effective approach to diagnostic testing.

SUBMITTER: Smith A

PROVIDER: S-EPMC5253259 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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The dilemma of diagnostic testing for Prader-Willi syndrome.

Smith Arabella A Hung Dorothy D

Translational pediatrics 20170101 1

Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a ...[more]

PMID: 28164030

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