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Table 1 Diagnosing r(14) syndrome: recommended investigations

From: Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Tests Recommended tests
Clinical chemistry 1st line laboratory test (blood counts, glucose, liver function, CPK, uric acid), T4, TSH, and T3.
Radiology Cerebral MR (after karyotyping evaluation)
Ophthalmology Fundus oculi, electrophysiological examination (pev, erg)
Genetics/molecular • Array-CGH
• Conventional karyotyping
Neuropsychology Complete neuropsychological evaluation