Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies
Use
This test aids in diagnosing mitochondrial diseases resulting from variants in the mitochondrial genome. It serves as a second-tier test for patients with negative targeted gene variant analyses related to mitochondrial diseases. It identifies variants within mitochondrial genes associated with mitochondrial diseases, which can be used for predictive testing of at-risk family members. The test specifically focuses on detecting mitochondrial genomic variants and is not suitable for detecting DNA level depletion or variants in nuclear-encoded mitochondrial genes.
Special Instructions
Not provided.
Limitations
This test does not detect depletion of mitochondrial DNA levels or variants in mitochondrial genes encoded by the nuclear genome. Variants not identified by this test do not exclude the possibility of mitochondrial disease. For predictive testing, the presence of a variant in an affected family member should be confirmed. Misinterpretations can occur without comprehensive clinical and family information. Rare polymorphisms might cause false positives or negatives. Large deletions beyond the targeted mitochondrial genes might not be fully interpreted.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 101152-7 - Mitochondria whole genome analysis Bld/T
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood and send in the original tube. Do not aliquot. Postnatal umbilical cord whole blood is also acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.
Storage Instructions
Recommended to be received within 4 days of collection. Extraction attempted for older specimens, with DNA yield evaluation to determine test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |