XomeDxPlus (Whole Exome Sequence + mtDNA)-Trio Build info
Synonyms |
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Procedure Name |
XOMEDXPLUS (WES+MTDNA)-TRIO |
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Procedure Master Number |
LAB11596 |
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Procedure ID |
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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. |
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Specimen Sources |
Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous | ||||||||
Specimen Types |
Blood | ||||||||
Container |
Lavender Top Tube or Buccal (Oral Cheek Swab)- Please include parental samples at time of draw |
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Collection Instructions |
Container/Tube: Lavender top tube |
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Specimen Volume |
2 - 5 mL whole blood |
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Transport Instructions |
Room Temperature |
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Specimen Stability |
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Methodology |
Next-gen Sequencing |
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Days Performed |
TAT: 6 Weeks |
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Performing Laboratory |
GeneDx |
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CPT |
81415 |
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PDM |
1659930 | ||||||||
Only Orderable at Locations: |
Orderable Everywhere | ||||||||
Ordering Instructions |
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 ter ms 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 mater ial. 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 tes ting. IndicatePatient, Mother, Fatheron specimens. DO NOT label parents with child labels |
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Results |
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Forms |
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