Specimens should be shipped at room temperature in a leak-proof, rigid container with overnight delivery. To discuss minimum acceptable specimens for neonatal patients or for sample types not listed, please contact Allele Diagnostics.
- Peripheral whole blood in EDTA: 2-3 mL
Dependent upon testing ordered
- Pediatric Molecular Genetics Test Requisition Form
- Please include a copy of positive genetic testing report from affected family member that describes the variant to be tested.
- Please include clinical notes and pedigree.
Dependent upon specific genes ordered
Dependent upon specific mutation.
Method for known mutation evaluation is dependent upon the specific mutation in the family.
The scope of this assay is site-specific and limited to the indicated known variant(s). This assay does not include analysis of any other genetic alternations, which may occur in the same or different gene(s).