Johns Hopkins DNA Diagnostic Laboratory

PLEASE NOTE: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

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Macrocephaly/Autism Syndrome

Gene:     PTEN 
Test:   Sequencing of a portion of the the promoter and the coding regions of PTEN
     
CPT Codes:
   Complete Sequence

83891 x 1
83898 x 13
83904 x 26
83909 x 26
83912 x 1
Sensitivity:    About 5% (1.1 to 17%) of patients with autism spectrum disorder and macrocephaly have PTEN mutations detectable by sequence analysis.  About 3% of patients with hamaratoma-related PTEN syndromes who have negative sequence results have PTEN deletions that cannot be detected by through this analysis.     
Cost:   $1434
Turn Around Time:    4 weeks
Special Considerations:   Clinical history on affected individual is requested.  
     

Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on Macrocephaly/Autism Syndrome

Link to Patient and Family Page for general resources on genetic testing.