MitoMet^SM Mitochondrial/Metabolic Oligonucleotide Array CGH Analysis
MITOCHONDRIAL DNA ANALYSIS

Description:

This array contains 44,000 oligonucleotide probes targeted to both mitochondrial and nuclear genes involved in mitochondrial and metabolic related diseases. Approximately 6000 probes cover the entire 16.6 kb mitochondrial genome in the forward and reverse direction. In addition, oligo probes targeted to approximately 180 nuclear genes that are involved in mtDNA biogenesis, maintenance of mitochondrial deoxynucleotide pools, mitochondrial transcription and translation factors, respiratory chain complex assembly and complex subunits, urea cycle disorders, fatty acid oxidation, amino acid metabolism, creatine pathway, progressive familial intrahepatic cholestasis, plus many more, are in the array. This array detects intragenic nuclear deletions/duplications larger than 1 kb and mtDNA deletions larger than 200 bp.

Indications for Testing:

MitoMet^SM aCGH analysis is recommended for autosomal recessive cases with one identified point mutation.
For autosomal dominant cases, MitoMet^SM aCGH analysis of samples negative on full gene sequence will detect heterozygous intragenic deletion or duplication.
MitoMet^SM aCGH analysis is recommended for cases where PCR fails to amplify regions for sequence analysis.
MitoMet^SM aCGH analysis is recommended for cases where intragenic or multigenic compound heterozygous deletions or duplications are suspected.
Quick screening for mitochondrial DNA deletions and depletions. The relevant tissues such as muscle and liver are recommended. Analysis on MitoMet^SM array will detect heteroplasmic mtDNA deletions. The analysis will also reveal approximate breakpoints and copy number.

Limitation of Testing:

This analysis will not detect point mutations or small deletion/duplication mutations. For mtDNA, the deletion of less than 200 bp and for nuclear genes deletion less than 1 kb may not be detected. Heteroplasmy of less than 15% may not be detected.

Testing Methodology:

The data are analyzed using quantitative imaging methods and analytical software to assist in identifying each targeted-DNA sequence as loss of copy number (deletion in nuclear gene and depletion in mtDNA), gain of copy number (duplication in nuclear gene or over-amplification in mtDNA) or normal copy number. This technology has been validated in our laboratory on many patients with known nuclear and/or mitochondrial gene deletions and mtDNA depletion.

Specimen Requirements:

Blood: EDTA (purple-top) tubes: Adult: 14 cc; Child/Infant: 6 cc

Special Notes:
1. For indications of Mitochondrial Deletions and/or Depletions, the laboratory recommends testing Skeletal Muscle or Liver specimens.
2. Skin Fibroblast Cultures (SFC) are not recommended for this assay. If this is the only sample available, please contact the lab to discuss submission of this sample type.

Requisition form must accompany the specimen. To receive forms, additional information or specimen collection kits, please contact the laboratory. Please call laboratory with specimen specific questions.