Autism laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]

Overview

There are no specific laboratory findings associated with autism. However, chromosomal studies for genetic deletions may be considered, once the diagnosis of autism has been made.

Laboratory Findings

There are no specific laboratory findings associated with autism. However, chromosomal studies for genetic deletions may be considered, once the diagnosis of autism has been made. The most commonly associated conditions with autism include fragile X syndrome and MECP2 deletion.

It is estimated that around 40% cases of autism are related to genetic causes.^[1]^[2]
Other laboratory tests such as metabolic tests are sometimes helpful, but are not routine.
Skin examination using woods light may show underlying hypopigmented macules (in tuberous sclerosis).

References

↑ Schaefer GB, Mendelsohn NJ (2008). “Genetics evaluation for the etiologic diagnosis of autism spectrum disorders”. Genet Med. 10 (1): 4–12. doi:10.1097/GIM.0b013e31815efdd7. PMID 18197051. Lay summary – Medical News Today (2008-02-07).
↑ McMahon WM, Baty BJ, Botkin J (2006). “Genetic counseling and ethical issues for autism”. Am J Med Genet C Semin Med Genet. 142C (1): 52–7. doi:10.1002/ajmg.c.30082. PMID 16419100.

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[1] Schaefer GB, Mendelsohn NJ (2008). “Genetics evaluation for the etiologic diagnosis of autism spectrum disorders”. Genet Med. 10 (1): 4–12. doi:10.1097/GIM.0b013e31815efdd7. PMID 18197051. Lay summary – Medical News Today (2008-02-07).

[McMahon-2] McMahon WM, Baty BJ, Botkin J (2006). “Genetic counseling and ethical issues for autism”. Am J Med Genet C Semin Med Genet. 142C (1): 52–7. doi:10.1002/ajmg.c.30082. PMID 16419100.

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