Mito/Met ACGH DNA Analysis
Label Mnemonic: MITO
Epic Lab Code: LAB3523
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Specimen Instructions:
ONLY Blood is accepted for Mito/Met ACGH DNA Analysis.
Collection Medium:
Pink top tube 6 mL (K2-EDTA)
Minimum:
Preferred Minimum: 5 mL EDTA whole blood
Absolute Minimum: 3 mL EDTA whole blood
Delivery Instructions:
Submit specimen to laboratory as soon as possible after collection.
Turn Around Time:
28 days upon receipt in reference laboratory
Reference Range:
See report
Interpretive Data:
This array contains 180,000 oligonucleotide probes targeted to both mitochondrial and nuclear genes involved in mitochondrial and metabolic related diseases. Approximately 3200 probes cover the entire 16.6 kb mitochondrial genome. In addition, oligo probes targeted to approximately 1,600 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 has detected intragenic nuclear deletions/duplications as small as 200bp to as large as the entire chromosome, and mtDNA deletions larger than 200 bp. Indications for Testing: 1. MitoMet® aCGH analysis is recommended for autosomal recessive cases with one heterozygous mutation identified by full gene sequencing. 2. MitoMet® aCGH analysis is recommended to detect heterozygous intragenic deletions or duplications for autosomal dominant cases negative on full gene sequence analysis. 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. MitoMet® aCGH analysis is recommended for cases where there is a failure to detect a mutation in the parent of the individual with an apparently homozygous mutation.
Comments:
Please print, complete, and submit the Mitochondrial DNA (mtDNA) Test Requisition from Baylor College of Medicine (BCM) Medical Genetics Laboratories with the appropriate signature, the correct sample type and the A-1a Miscellaneous Request.

This mailout test requires pathologist approval for orders during inpatient encounters. Mailouts staff will not process order without approval. The pathologist covering mailouts approval can be reached at pager #5379. If approval is given, the name of the pathologist can be selected in the drop-down menu to the right of the approval warning in Epic when ordering the test.
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:
Microarray
CPT Code:
81228