Mitochondrial Disorders (mtDNA) Sequencing and Deletion/Duplication
2006872
Ordering Recommendation
 
Mnemonic
MT SEQDD
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)
81403 x2  (MT-RNR1; MT-TS1), 81405, 81479 x2
Components
Component Test Code*Component Chart Name
2006873Mito Disorders Seq and DelDup, Specimen
2006876Mito Disorders 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
  • Kearns-Sayre syndrome (KSS)
  • Leber hereditary optic neuropathy (LHON)
  • Leigh syndrome
  • mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
    mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
  • 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 microarray testing
  • myoclonic epilepsy with ragged red fibers (MERRF)
  • neurogenic weakness with ataxia and retinitis pigmentosa (NARP)
  • Pearson syndrome
  • progressive external ophthalmoplegia (PEO)