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Diagnostic Tests for Fragile-X Syndrome
Fragile-X Syndrome: Diagnostic Tests
The list of diagnostic tests mentioned in various sources as used in the diagnosis of Fragile-X Syndrome includes:
Diagnostic Tests for Fragile-X Syndrome: Online Medical Books
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MENTAL RETARDATION:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
Routine laboratory tests include a CBC, sedimentation rate, chemistry panel, serum galactose level, VDRL test, thyroid profile, and urine screen for carbohydrates, amino acids, and organic acids. Chromosomal analysis may detect Klinefelter's syndrome, Turner's syndrome, mongolism, and other disorders. If there are deformities of the skull present, a skull x-ray should be done.
An EEG, CT scan of the brain, and psychometric testing will often need to be done, but a referral to a neurologist should be made before ordering these expensive tests.
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
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