NuclearMitome™

 

DESCRIPTION - Comprehensive Sequence Analysis of >400 Nuclear Mitochondrial Genes

Hundreds of nuclear genes have been identified as causative for mitochondrial disorders presenting as neuropathies, myopathies or liver disease, or are recognized to be important for mitochondrial function. Enabled by next-generation sequencing technology, the NuclearMitome Test provides comprehensive sequence analysis of more than 400 nuclear genes that may affect normal mitochondrial function.

Test Order Code NUCLEAR-MITOME

CPT Codes

83891 X 1, 83892 X 3, 83894 X 4, 83898 X 2, 83900 X 1, 83901 X 1, 83904 X 448, and 83912 X 1

Indications For Testing The Nuclear Mitome Test is indicated for individuals clinically suspected of a nuclear mitochondrial disorder.

Turn Around Time

 3 to 4 months
Specimen Requirements Ship one of the following:

Peripheral Blood
A full 4 ml blood sample in the 4 ml Lavender-top (EDTA) tube provided in the DNA Specimen Collection Kit (Part Number 443002) is required. Samples can also be shipped in an ACD tube that is not supplied in the kit. Keep the sample at ambient temperature and ship by overnight courier to the test laboratory.

DNA
15 µg at a minimum concentration of 100 ng/µl. Keep the sample at ambient temperature and ship by overnight courier to the test laboratory.

Specimen Kits DNA Specimen Collection Kit 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

    NuclearMitome Test Requisition and Patient Consent Form
Test Methodology Solution-based hybrid capture of more than 400 targeted nuclear genes coupled to next-generation sequencing using an Illumina genome analyzer.

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.