XomeDx (Whole Exome Sequence + mtDNA) Plus-Duo

Synonyms

• LAB14607
• WES PLUS DUO
• XOMEDX PLUS-DUO

Cerner Name

XomeDx Plus-Duo

Clinical Info

XomeDx, or whole exome sequencing (WES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual. The XomeDx test is different from other types of genetic diagnostic tests in terms of the number of genes that are sequenced simultaneously. The XomeDx test targets the protein-coding regions of the human genome, which represents ~20,000 genes and accounts for approximately ~2% of all human genetic material.Determination of a clinical diagnosis Identification of gene implicated in genetic disease 

This is a DUO test which includes the Patient and Parent to be drawn and submitted for testing.Indicate Patient, Mother, Father on specimens.DO NOT label parents with child labelsGeneDx Code 561e  + 561m

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

2-5 mL Blood - Lavender Top Tube

Container

Lavender Top Tube

Collection Instructions

Alternative Specimen

Dried Blood Spots | Buccal Swabs | Skin Punch | Cultured Fibroblasts

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Days Performed

TAT: 3 weeks

Performing Laboratories

GeneDx Laboratories

CPT

81415,81416

PDM

255200

Results

Result Interpretation

Forms