Mitochondrial Disorders Panel (mtDNA and 108 Nuclear Genes) Sequencing and Deletion/Duplication
2006054
Ordering Recommendation
Comprehensive genetic test for diagnosing mitochondrial disorders caused by mitochondrial (mtDNA) or nuclear gene mutations.
Mnemonic
MT PANEL
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
  
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)
81403 x2  (MT-RNR1; MT-TS1), 81404 x11  (C10orf2; COX6B1; CPT2; FXN; NDUFA1; NDUFS4; SCO2; SDHB; SDHC; SDHD; SLC25A5), 81405 x26  (ACADS; APTX; BCKDHA; BCS1L; COX10; COX15; DBT; DGUOK; FH; MPV17; NDUFS7; NDUFS8; NDUFV1; PDHB; PINK1; RRM2B; SCO1; SDHB; SDHC; SLC22A5; SLC25A20; SPG7; SURF1; TK2; TYMP; Mito del/dup), 81406 x19  (ACADVL; ASS1; BCKDHB; 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 NameLOINC
2006055Mitochrondrial Panel Specimen 
2006059Mitochondrial Panel Interpretation 
* 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, LRPPRC, MCCC2, MFN2
  • Kearns-Sayre syndrome (KSS)
  • 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)
  • MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3
  • 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 and deletion/duplibcation assay
  • myoclonic epilepsy with ragged red fibers (MERRF)
  • NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1
  • neurogenic weakness with ataxia and retinitis pigmentosa (NARP)
  • PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC22A5
  • Pearson syndrome
  • progressive external ophthalmoplegia (PEO)
  • SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1
  • SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1