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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81404 x2 (SDHC, SLC25A20), 81405 x3 (DBT, Mito Genome DD, SPG7), 81406 (OPA1), 81479
Components
Component Test Code*Component Chart Name
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.
Cross References
  • 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