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, if possible.
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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
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, please click the sidebar link to access the Interface Map.
Aliases
  • ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, ATXN7, BCKDHA, BCKDHB, BCS1L
  • C10orf2, CABC1, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19
  • DNM1L, ETFA, ETFB, ETFDH, ETHE1, FH, FXN, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2
  • Leigh syndrome
  • LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4
  • Mitochondrial disorders nuclear genes sequencing and deletion/duplication assay
  • mtDNA disorders nuclear genes sequencing and deletion/duplication assa
  • NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB
  • Nuclear genes sequencing and deletion/duplication
  • PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHA, SDHB
  • Progressive external ophthalmoplegia (PEO)
  • SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1
  • SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1