Single gene sequencing and deletion/duplication analysis¹

Test #:

8835

Turnaround Time:

3-5 weeks

Specimen Requirements:

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

CPT Codes:

Dependent upon testing ordered

Ordering Requirements:

• Pediatric Molecular Genetics Test Requisition Form
• Please include clinical notes and pedigree.

Genes (1):

Dependent upon specific genes ordered

Test Description:

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.

Detection:

Clinical sensitivity varies by gene and condition. Please inquire to discuss sensitivity for individual genes.