Allele Diagnostics - Known mutation evaluation

Known mutation evaluation¹

Test #:

8560

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:

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.

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.

Detection:

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).