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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

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172