Mito/Met Array CGH Analysis
Order Code: MITO
Epic Lab Code: LAB3523
Order Form: A-1a Miscellaneous Request or Epic Req
Commercial Mail-out Laboratory
6240 RCP
356-3527
Specimen:
Whole Blood
Collection Medium:
and and and
Lavender top tube 4 mL (EDTA) Lavender top tube 4 mL (EDTA) Lavender top tube 4 mL (EDTA) Lavender top tube 4 mL (EDTA)
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:
3 weeks upon receipt in reference laboratory
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 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.
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