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Specimen Collection Manual and Test Catalog

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XOMEDXPLUS-TRIO, GENEDX

Geisinger Epic Procedure Code:  LAB4033    Geisinger Epic ID:  167401
Test Restriction:  ORDER LIMITED TO GENETICS, PED NEURODEVELOPMENT, NEUROLOGY

SPECIMEN COLLECTION
Specimen type: 

EDTA whole blood (preferred) OR 2 buccal swabs


Preferred collection container: 
Alternate collection container: 
3 mL lavender-top (K2 EDTA) tube
Specimen required: 

2-5 mL EDTA whole blood OR 2 buccal swabs



SPECIMEN PROCESSING
Transport temperature: 

Refrigerated.


Specimen stability: 

Refrigerated: 7 days.



TEST DETAILS
Additional information: 

XomeDxPlus includes whole exome sequencing as well as mitochondrial genome sequencing and deletion testing. For more information on the mitochondrial genome sequencing and deletion component of the XomeDxPlus testing, please visit our neurology/mitochondrial genetics page on our website. XomeDxPlus is best suited for individuals with clinical features suggesting a mitochondrial disorder. Family member samples MUST BE RECEIVED WITHIN 3 WEEKS. Ordered test codes may require adjusting to appropriately correspond with relative samples received. A change in the ordered test will impact billing, including prior benefits investigations. To ensure that family members are linked properly and in a timely manner, be sure to include the following information for each relative sample: Relative name Relative DOB Proband's name Proband's DOB Relative's relationship to proband.


CPT code(s):  561a (exome sequencing): 81415x1, 81416x2 / 561m (mtDNA): 81460x1, 81465x1
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Methodology: 
Next Generation Sequencing
Synonyms: 

GENEDX CODE 690A, EXOME TRIO & MITO, WES TRIO & MITO


Clinical significance: 

Determination of a clinical diagnosis. Identification of gene implicated in genetic disease. Recurrence risk assessment.


Doctoral Director(s): 
Randin Nelson MD
Review Date:  12/16/2024

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