Known mutation evaluation1

Test #:


Turnaround Time:

3-4 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:

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).

  1. This test is performed at a partner lab of Allele Diagnostics.