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PTEN-associated Macrocephaly/Autism Syndrome
PTEN (Phosphatase and Tensin Homolog)
Autism spectrum disorders (ASDs) are a group of severe neurodevelopmental disorders, in which patients show deficits in social interaction, impaired communication, repetitive behavior and restricted interests and activities. The prevalence of ASDs is rising, and it is estimated that 60 per 10,000 individuals currently have a form of ASD and 13 per 10,000 individuals have autism. ASDs include several clinically defined conditions, of which pervasive developmental disorder (not otherwise specified) and autistic disorder (‘classic’ autism) are the most common. Autism often appears to be associated with either macrocephaly or microcephaly. It is reported that 84% of patients with autism have a head circumference greater than the 50th percentile, and 24% have a head circumference above the 98th percentile. Microcephaly with a head circumference below the 3rd percentile was found in 15.1% of autistic patients. Mutation in the PTEN gene has been reported in a subgroup of patients with ASD who had significant macrocephaly with a head circumferences ranging from +2.5 to +8 SD for age and sex. Most but not all patients also had dysmorphic facial features. However, typical clinical signs of Cowden syndrome (CS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS) were usually lacking.
PTEN testing in ASD/macrocephaly includes bi-directional sequence analysis of the coding exons 1-9 and of the core promoter region (approximately from c.-700 to c.-1300). The sequencing approach used by GeneDx will identify >99% of existing small, intragenic mutations in the PTEN gene and promoter region.
Concurrently, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is performed to evaluate for a deletion or duplication of one or more exons of this gene or the 5’ regulatory region (promoter and E-box element).
Sample requirements:
A single tube with 1-5 mL blood in EDTA
Turn-Around Time:
Approximately 8 weeks
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
PTEN; autism, autism spectrum disorder, autistic, macrocephaly, large head size, head circumference, speech delay, developmental delay, dysmorphic, dysmorphism, Cowden; CS; Bannayan-Riley-Ruvalcaba; BRRS; congenital; sequence analysis; coding exons; promoter; deletion, duplication, copy number, gene dosage, MLPA, CopyDx; quantitative PCR; qPCR; mutation
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