Feedback
Mitochondrial Disorders (121 Nuclear Genes by Sequencing, 119 Nuclear Genes by Deletion/Duplication)
2006878
Ordering Recommendation
Diagnose mitochondrial disorders resulting from mutations in nuclear genes.
Mnemonic
MT N SQDD
Methodology
Massive Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
10-12 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
Genes tested by Sequencing: ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, ADCK3, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, COQ2, COQ9, COX10, COX15, COX4I2, COX6B1, CPT1A, CPT2, CYCS, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FH, FXN, GFER, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, ISCU, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHAF1, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TIMM8A, TK2, TMEM70, TMPO, TRMU, TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1

Genes tested by Deletion/Duplication: ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, ADCK3, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, COQ2, COQ9, COX10, COX15, COX4I2, COX6B1, CPT1A, CPT2, CYCS, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FH, FXN, GFER, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, ISCU, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHAF1, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TIMM8A, TK2, TMEM70, TMPO, TRMU, TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1
CPT Code(s)
81404 x3  (MPV17; SDHC; SLC25A20), 81405 x3  (DBT; PDHA1; SPG7), 81406 (OPA1), 81440, 81479
Components
Component Test Code*Component Chart NameLOINC
2006879MitoDisord - Nuclear Seq/DelDup Specimen31208-2
2006882MitoDisord - Nuclear Seq/DelDup Interp35474-6
* 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, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ2, COQ9, COX10, COX15
  • COX4I2, COX6B1, CPT1A, CPT2, CYCS, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FH, FXN, GFER, GFM1
  • HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, ISCU, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2
  • Mitochondrial disorders nuclear genes sequencing and deletion/duplication assay
  • mtDNA disorders nuclear genes sequencing and deletion/duplication assa
  • NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1
  • Nuclear genes sequencing and deletion/duplication
  • PC, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHAF1, SDHB, SDHC, SDHD
  • Progressive external ophthalmoplegia (PEO)
  • SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TIMM8A, TK2
  • TMEM70, TMPO, TRMU,TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS