XomeDxPlus (Whole Exome Sequence + mtDNA)-Trio Build info

Synonyms

  • XOMEDXPLUS (WES+MTDNA)-TRIO
  • HG19 EXV3P
  • EXOME TRIO
  • LAB11596

Short Name

XOMEDXPLUS (WES+MTDNA)-TRIO

Procedure Master Number

LAB11596

Procedure ID

115507

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 Recurrence risk assessment This is a Trio test which includes the Patient, Mother and/or Father to be draw and submitted for testing.
Indicate Patient, Mother, Father on specimens.
DO NOT label parents with child labels

GeneDx Code 561a-7  + 561m

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood 

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-gen Sequencing

Days Performed

TAT:  6 Weeks

Performing Laboratory

GeneDx

CPT

81415
81416x2
81460
81465

PDM

1659930

Results

Component Name Base Name Common Name External Name
XOMEDXPLUS (WES+MTDNA)-TRIO XENOMED XOMEDXPLUS WES MTDNA TRIO Xomedxplus (Wes+Mtdna)-Trio