Mitochondrial Disorders (108 Nuclear Genes) Sequencing and Deletion/Duplication
2006878
Ordering Recommendation
 
Mnemonic
MT N SQDD
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
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 x11  (C10of2; COX6B1; CPT2; FXN; NDUFA1; NDUFS4; SCO2;  SDHC (del); SDHD; SLC25A20; SLC25A4), 81405 x25  (ACADS; APTX; BCKDHA; BCSIL; COX10; COX15; DGUOK; FH; MPV17; NDUFS7; NDUFS8; NDUFV1; PDHB; PINK1; RRM2B; SCO1; SDHB; SDHC; SLC22A5; SLC25A20; TK2; SPG7; SURF1; TK2; TYMP), 81406 x19  (ACADVL; ASS1; BCKHB; 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 Name
2006879Mito Nuclear Seq and DelDup, Specimen
2006882Mito Nuclear Seq and DelDup, 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
  • Leigh syndrome
  • LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4
  • Mitochondrial disorders nuclear genes sequencing and deletion/duplication assay
  • mtDNA disorders nuclear genes sequencing and deletion/duplication assa
  • NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB
  • Nuclear genes sequencing and deletion/duplication
  • PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHA, SDHB
  • Progressive external ophthalmoplegia (PEO)
  • SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1
  • SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1