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Pediatric Testing Laboratories, Development Delay Testing

Clinical Indications for Assure™ SNP Microarray

  • Individuals with non-syndromic congenital anomalies, dysmorphic features, developmental delay, mental retardation, intellectual disability, and/or autism spectrum disorders (ASD).
  • Previous chromosome analysis that was reported normal with any of the above.
  • Phenotypically abnormal individuals with apparently balanced chromosome rearrangements or unidentified marker chromosomes.

Specimen Requirements

Sample Type Chromosome
CMA Direct
Peripheral Blood 5-10 ml 5-10 ml
A completed requisition and consent form should be sent with each sample.

 Reporting of Results

  • Copy number gain/losses of >50Kb within clinically significant genes or regions
  • Copy number loss of >200 kb or gain >500 kb outside known clinically significant regions with at least one OMIM annotated gene or within a region of clear clinical significance

Identification of UPD and consanguinity