WHOLE MITOCHONDRIAL GENOME ANALYSIS WITH HAPLOTYPING, and DELETION ASSAY |
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DESCRIPTION - Mitochondrial DNA Analysis
The Whole Mitochondrial Genome Scan is a comprehensive, sensitive test for mitochondrial diagnostics with the capability of detecting mtDNA variants and mutations (known and unknown) encompassing hundreds of disease-related mutations. Mitochondrial DNA (mtDNA) is a 16.5 kb circle of maternally inherited, extra nuclear, double-stranded DNA. It contains 37 genes encoding two ribosomal RNA’s, 22 transfer RNA’s and 13 subunits of the respiration chain. Mitochondrial disorders are associated with a heterogeneous set of clinical and pathological features. The variable age of onset, mode of presentation and rate of progression of many mitochondrial disorders makes diagnosis particularly difficult. This test reports on all heteroplasmic and homoplasmic mutations detected in the ENTIRE mitochondrial genome - including novel variants and polymorphisms.
This assay also detects large deletions, such as those associated with Pearson’s Syndrome, CPEO*, KSS*, and Maternally Inherited Deafness.
*SEE NOTE UNDER SPECIMEN REQUIREMENTS.
Haplotyping
In human genetics, Human mitochondrial DNA haplogroups are haplogroups defined by differences in human mitochondrial DNA. These haplogroups trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread across the globe. Various publications are indicating that these haplogroups are involved in reducing risk of PD, increasing longevity and some increased risk of cancer.
For a comprehensive listing of disease and conditions detected by the Whole Mitochondrial Genome Analysis, click here.
Whole Mitochondrial Genome Analysis with Haplotyping
| Test Order Code | MITO-WGA |
| CPT Codes | 83891 x 1, 83892 x 20, 83894 x 1, 83898 x 46, 83903 x 20, 83904 x 45, 83909 x 45, 83912 x 1 |
| Indications For Testing |
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| Turn Around Time | Less than four weeks. Expedited analysis is available upon request for an additional charge. |
| Specimen Requirements |
When looking for deletions
indicative of KSS or CPEO, a muscle biopsy is the recommended specimen
type because there is a higher detection of these deletions in muscle.
We will accept a blood sample, however, a negative result in blood does
not rule out the possibility of deletions indicative or KSS or CPEO. If
a negative result is obtained from blood, we recommend having the test
run on a muscle biopsy. Ship one of the following:
Saliva
Peripheral Blood Muscle Biopsy
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| Specimen Kits | DNA Specimen Collection Kits can be obtained from Transgenomic Labs. |
| Shipping and Contact Information |
Transgenomic Labs Five Science Park, New Haven, CT 06511 USA Phone:1.877.274.9432 Fax: 203.786.3418 E-mail: labservice@transgenomiclabs.com |
| Test Submission and Patient Consent Forms |
Test
Requisition and Patient Consent Form Due to the unique nature of genetic testing, patients should receive pre-test and post-test counseling. Informed consent is recommended. |
| Test Methodology | Whole mitochondria genome heteroplasmic mutations are detected by the WAVE® System using SURVEYOR® Nuclease and sequenced for confirmation. Homoplasmic mutations are deteced by bi-directional sequencing. Large deletions and duplications are amplified by expanded Long Range PCR (LR-PCR) and detected by gel electrophoresis. |
| References |
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Additional References
Note: The performance characteristics of this test were validated by Transgenomic Labs. The U.S. Food and Drug Administration (FDA) has not approved this test. However, FDA approval is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. Transgenomic Labs is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.