Mitochondrial Disorders (108 Nuclear Genes) Sequencing and Deletion/Duplication
2006878
 
Ordering Recommendation
Mnemonic
MT N SQDD
Methodology
Massive Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
Within 12 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory.
Specimen Required
Patient Preparation
 
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.  
Unacceptable Conditions
 
Remarks
Submit the Patient History Form for Mitochondrial Disorders Studies with the Electronic Packing List.  
Stability
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
Note
CPT Code(s)
81404 x11 (C10of2; COX6B1; CPT2; FXN; NDUFA1; NDUFS4; SCO2; SDHC (del); SDHD; SLC25A20; SLC25A4), 81405 x25 (ACADS; APTX; BCKDHA; BCSIL; COX10; COX15; DGUOK; FH; MPV17; NDUFS7; NDUFS8; NDUFV1; PDHB; PINK1; RRM2B; SCO1; SDHB; SDHC; SLC22A5; SLC25A20; TK2; SPG7; SURF1; TK2; TYMP), 81406 x19 (ACADVL; ASS1; BCKHB; CPT1A; DBT; DLAT; DLD; HADHA; HADHB; MCCC2; MFN2; NDUFS1; OPA1; PC; PDHX; POLG; SDHA; SPG7; TAZ), 81407 (OPA1), 81479 x2
Components
Component Test Code*Component Chart Name
2006879Mito Nuclear Seq and DelDup, Specimen
2006882Mito Nuclear Seq and DelDup, Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References