Specimen:

Whole Blood

Collection Medium:

Minimum:

Adult minimum:  14 mL EDTA whole blood
Pediatric mimimum:  6 mL EDTA whole blood

Delivery Instructions:

Submit specimen to laboratory as soon as possible after collection.

Analytic Time:

4 weeks

Reference Range:

See report

Interpretive Data:

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

Comments:

Please print, complete, and submit the Mitochondrial Requisition 
from Baylor College of Medicine (BCM) Medical Genetics Laboratories 
with the appropriate signature, the correct sample type and the A-1a 
Miscellaneous Request.

Test
Limitations:

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.

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 at the 
reference laboratory on many patients with known nuclear and/or 
mitochondrial gene deletions and mtDNA depletion.

CPT Code:

83891 x1, 83896 x100, 83903 x2, 83912 x1