Skip to main content

Specimen Collection Manual and Test Catalog

  or
  or
  or

MITO GENOME SEQUENCING AND DELETION TESTING, GENEDX

Geisinger Epic Procedure Code:  LAB4034    Geisinger Epic ID:  167402
Test Restriction:  ORDER LIMITED TO GENETICS

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
CPT code(s):  81460, 81465
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.

Test includes: 

ACTA2, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3,


Methodology: 
Next Generation Sequencing
Synonyms: 

GENEDX CODE 554, MITOCHONDRIAL SEQUENCING, MITO, ADD-ON MITO


Clinical significance: 

Molecular confirmation of a clinical diagnosis. Testing of patients suspected of having a mitochondrial disorder


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

Performing Locations