Mental retardation other diagnostic studies
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. [1]
- Karyotyping to rule out Down Syndrome (trisomy 21) [2]
- Direct DNA studies for ruling out Fragile X syndrome [3]
- HIV test in high-risk infants [4]
- Urine and serum amino acid and organic acid analysis [5]
- Enzyme studies for storage diseases or peroxisomal disorders [6]
- Muscle enzymes [7]
- Electroencephalography (EEG) for patients with seizures [8]
- TORCH screening [9]
References
- ↑ “Intellectual Disability – Pediatrics – MSD Manual Professional Edition”.
- ↑ “Intellectual Disability – Pediatrics – MSD Manual Professional Edition”.
- ↑ “Intellectual Disability – Pediatrics – MSD Manual Professional Edition”.
- ↑ “Intellectual Disability – Pediatrics – MSD Manual Professional Edition”.
- ↑ “Intellectual Disability – Pediatrics – MSD Manual Professional Edition”.
- ↑ “Intellectual Disability – Pediatrics – MSD Manual Professional Edition”.
- ↑ “Intellectual Disability – Pediatrics – MSD Manual Professional Edition”.
- ↑ “Intellectual Disability – Pediatrics – MSD Manual Professional Edition”.
- ↑ “Intellectual Disability – Pediatrics – MSD Manual Professional Edition”.
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