Medical Genetics Test Details
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|MitoMetŪPlus aCGH Analysis|
|Test Information:||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 about 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.
Limitations of Testing:
This analysis will not detect point mutations or small deletion/duplication mutations. For mtDNA deletions of less than 200 bp and for nuclear genes, deletions less than 1 kb may not be detected. Heteroplasmy of less than 15% may not be detected.
ONLY Blood is accepted for MitoMetŪPlus aCGH analysis.
MitoMetŪPlus aCGH analysis Indications:
1. MitoMetŪPlus aCGH analysis is recommended for autosomal recessive cases with one heterozygous mutation identified by full gene sequencing.
2. MitoMetŪPlus aCGH analysis is recommended to detect heterozygous intragenic deletions or duplications for autosomal dominant cases negative on full gene sequence analysis.
3. MitoMetŪPlus aCGH analysis is recommended for cases where PCR fails to amplify regions for sequence analysis.
4. MitoMetŪPlus aCGH analysis is recommended for cases where intragenic or multigenic compound heterozygous deletions or duplications are suspected.
5. MitoMetŪPlus 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.
|Methodology:||Deletion/duplication analysis performed using a custom designed gene centric microarray.|
|Test Type:||Deletion/Duplication Analysis|
|Sample & Shipping Information|
|Requirements:||Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children).|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
|Turn Around Time:||28 days|
|List Price:||*For Insurance or Institutional Prices, please call.|