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Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication)
2006054
Ordering Recommendation

Preferred test to confirm a suspected diagnosis of a mitochondrial disorder caused by a mitochondrial genome (mtDNA) sequence variant or variant(s) in related nuclear genes. Test not indicated for disorders commonly caused by large deletions in the mtDNA (eg, chronic progressive external ophthalmoplegia [CPEO], Kearns-Sayre syndrome [KSS], and Pearson syndrome).

Mnemonic
MT PANEL
Methodology
Massively Parallel Sequencing/Exonic Oligonucleotide-Based CGH Microarray
Performed
Varies
Reported
6-8 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Genes tested by Sequencing: MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, 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
Hotline History
View Hotline History
CPT Code(s)
Components
Component Test Code*Component Chart NameLOINC
2006055Mitochrondrial Panel Specimen31208-2
2006059Mitochondrial Panel Interpretation35474-6
* 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
  • Leber hereditary optic neuropathy (LHON)
  • Leigh syndrome
  • Mitochondrial disorders nuclear genes sequencing and deletion/duplication assay
  • mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
  • MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5
  • MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
  • MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1
  • MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY
  • mtDNA nuclear genes sequencing
  • myoclonic epilepsy with ragged red fibers (MERRF)
  • NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC
  • neurogenic weakness with ataxia and retinitis pigmentosa (NARP)
  • 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, WFS