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 Analysis |
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