ARUP's Laboratory Test Directory

Mitochondrial Disorders (108 Nuclear Genes) Sequencing : 2006050
[ image for: Patient History for Mitochondrial Disorder Testing]
Patient History for Mitochondrial Disorder Testing
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: MT N SQ

Methodology: Massive Parallel Sequencing
Performed: Varies
Reported: Within 12 weeks
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B). Peripheral blood required.

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Remarks: Submit the Patient History Form for Mitochondrial Disorders Studies with the Electronic Packing List.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
By report
Interpretive Data: Refer to report.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81405 (ACADS), 81405 (FH), 81406 (MCCC2), 81406 (PC), 81405 (PDHB), 81406 (POLG), 81405 (SDHB), 81405 (SDHC), 81404 (SDHD), 81404 (SLC25A4), 81479 (1)