Carnitine Palmitoyltransferase IA Deficiency: CPT1A Sequencing
Test code: DCPT
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with carnitine palmitoyltransferase IA deficiency.
Mitochondrial
Mitochondrial DNA Variant Panel
Test code: DMVP
TAT: 5 weeks
A panel of 96 mitochondrial DNA variants intended for patients with a diagnosis or clinical suspicion of a mitochondrial disorder.
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Variant
Test code: DMTP
TAT: 28 days
mtDNA Targeted Analysis with heteroplasmy is a next generation sequencing test used to detect a previously identified mtDNA varient.
mtDNA Targeted Analysis: Known Familial Variant
Test code: DMTS
TAT: 14 days
mtDNA Targeted Analysis is a Sanger sequencing test used to detect a previously identified mtDNA variant.