Forms and Documents
- Molecular confirmation of a clinical diagnosis
- Testing of patients suspected of having a mitochondrial disorder
- Next-Gen Sequencing
Molecular confirmation of a clinical diagnosis
Testing of patients suspected of having a mitochondrial disorder
Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
65 confirmed disease-causing mtDNA point variants (see list in Test Info Sheet) and large scale deletion analysis of the mitochondrial genome (including LHON [20 mutations], MELAS [16 mutations], LS/NARP [22 mutations], MIHL/MIDM [10 mutations)] MERRF [6 mutations], KSS, CPEO, Pearson syndrome, etc.)
Urine is only accepted specimen type for this targeted mtDNA variant test.
Laboratories classify genetic changes as variants of uncertain significance (VUS) when there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of a VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as a pathogenic, likely pathogenic, benign, or likely benign variant. For such cases, GeneDx has established a Variant Testing Program (VTP).
How do I determine if a variant is eligible for the Metabolic/Mitochondrial Disorders VTP?
GeneDx considers requests for the Metabolic/Mitochondrial Disorders VTP for any individual found to have a VUS identified in a proband by metabolic or mitochondrial genetic testing at our laboratory. These studies will be performed at no additional charge for select and pre-approved family members who meet certain criteria and for whom appropriate clinical information is provided. Genetic testing for other variants or additional family members, including predictive testing, is not included in our VTP and can be ordered separately for charge. GeneDx will make the final determinations for VTP in its sole discretion.
Application process for the Metabolic/Mitochondrial Disorders VTP:
Note that testing through the VTP only includes testing for the familial variant(s) in question. More thorough testing that may have been performed on the original patient is not provided through the VTP.
Reasons why family members may not be accepted into the Metabolic/Mitochondrial Disorders VTP:
Variant studies for the evaluation of a single VUS in a gene associated with an autosomal recessive disorder are rarely informative. Therefore, these requests are typically denied.
Revising the classification of variants of uncertain significance takes a great deal of data and information from multiple sources. Therefore, there is no guarantee that participation in the VTP will lead to an updated classification of a VUS based on information from a single family, although cumulative data collected from multiple families over time may lead to a more definitive classification for a variant.
For more information please contact:
The GeneDx Metabolic/Mitochondrial Genetic Counselors at 301-519-2100.