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 clinical notes and pedigree.
Dependent upon specific genes ordered
Method dependent upon gene
Performed using a combination of Next Generation Sequencing (NGS), Sanger Sequencing, exon-level microarray, and/or MLPA dependent upon gene. Please inquire for more information about a specific gene.