A member asked:

Helping my sons pediatrician help me. son diagnosed with autism. no blood work to rule out anything else. what tests should he order?

6 doctors weighed in across 3 answers
Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

Current standards : For genetic testing in a child with autism include comparative genomic hybridization & dna probe for fragile x. If there are physical findings like unusual facial features or hyper- or hypo-pigmented areas of skin (seen with a wood's light), there may be more specific tests. The need for an MRI of the brain is determined by head growth (birth-present) & specific findings on neurological exam.

Answered 6/10/2014

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Other tests: Other tests you might want to ask about include an eeg (brain wave test), chromosome test (karyotype), specific microdeletion tests such as williams syndrome and prader willi syndrome. I agree with the fragile x test. There are many other tests which may or may not be helpful. Many of these tests would fall under the category of alternative medicine or experimental.

Answered 1/10/2013

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Autism work up: The current complete evaluation of a child with autism includes a thourough physical exam (including a wood's lamp exam for hypopigmented lesions of tuberous sclerosis), hearing test, chromosomal microarray, cbc, and ferritin. In cses where there is clinical deterioration, add mecp 2 (to r/o rett's disease).

Answered 11/6/2015

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