Mental retardation other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2]

Overview

There are no other diagnostic studies associated with [disease name].

OR

[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

• Chromosomal microarray analysis to look for copy number variants seen in Cri du chat syndrome or DiGeorge syndrome.
• Karyotyping to rule out Down Syndrome (trisomy 21)
• Direct DNA studies for ruling out Fragile X syndrome
• HIV test in high-risk infants
• Urine and serum amino acid and organic acid analysis
• Enzyme studies for storage diseases or peroxisomal disorders
• Muscle enzymes
• Electroencephalography (EEG) for patients with seizures
• TORCH screening