XomeDxPlus (WES+mtDNA)-TRIO HG19 ExV3P

Synonyms
Allscripts (AEHR) Order Name	XomeDx (Whole Exome Sequencing) TRIO
Sunrise Clinical Manager (SCM) Order Name	XomeDxPlus (WES+mtDNA)-TRIO
EPIC Order Name	XomeDxPlus (Whole Exome Sequence + mtDNA)-Trio
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
Result Interpretation See Report XomeDx^® Plus consists of concurrent evaluation of the exome and mitochondrial genome using two separate assays. Separate result reports will be issued for the exome analysis and the mitochondrial genome analysis. XomeDx^® Plus is best suited for individuals with clinical features suggesting a mitochondrial disorder. If family member samples are being submitted for trio or duo testing, each sample should be labeled with the name and date of birth of the person whose sample is contained in the tube, as well as the date of collection.
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