ARUP's Laboratory Test Directory

Mitochondrial Disorders (mtDNA) Sequencing and Deletion/Duplication : 2006872
[ image for: Patient History for Mitochondrial Disorder Testing]
Patient History for Mitochondrial Disorder Testing
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: MT SEQDD

Methodology: Massive Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
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): 81403 (MT-RNR1), 81403 (MT-TS1), 81479 (2)