Single gene sequencing and deletion/duplication analysis1

Test #:


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:
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.

Clinical sensitivity varies by gene and condition. Please inquire to discuss sensitivity for individual genes. 
  1. This test is performed at a partner lab of Allele Diagnostics.