Mitochondrial Genome (mtDNA and 108 Nuclear Genes) Deletion/Duplication
2006061
Ordering Recommendation
This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.
Mnemonic
MT DD
Methodology
Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
Within 4 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 x2 (SDHC, SLC25A20), 81405 x3 (DBT, Mito Genome DD, SPG7), 81406 (OPA1), 81479
Components
Component Test Code*Component Chart NameLOINC
2006062mtDNA Genome Del/Dup Specimen 
2006063Mitochondrial Genome Del/Dup 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, LRPPRC, MCCC2, MFN2
  • Kearns-Sayre syndrome (KSS)
  • Mitochondrial disorders nucelear genes deletion/duplication assay
  • 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
  • NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1
  • 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