MITOCHONDRIAL MYOPATHY

We provide targeted DNA sequencing allowing us to focus specific areas of interest at a reduced price and faster delivery time. Our laboratory’s technology can accommodate small blood sample sizes, making it viable alternative to a trip to the phlebotomist and reducing the impact of blood-drawing on patients’ health.

MYOPATHY

Genetic Testing - Coagulation Disorders

NEXT GENERATION SEQUENCING – GERMLINE MUTATION

Our mtDNA Amplicon Sequencing Panel targets 21 mitochondrial genes associated with myopathy that include muscle weakness and wasting and other problems with movement. This assay is performed using mitochondrial DNA isolated from human peripheral mononuclear cells.
The test is intended to identify the variants found in mitochondrial genes that are associated with myopathy. The test is performed as a pre-symptomatic genetic test in order to determine whether an individual with a family history of a myopathy disease, but no current symptoms, has the gene alterations associated with the disease. The test can also be used for post-symptomatic genetic testing to confirm variants of association to myopathy disorders.

ANT1 (SLC25A4)
DGUOK
MPV17
MT-ATP6
MT-ND1
MT-ND5
MT-TF
MT-TH
MT-TK
MT-TL1
MT-TS1
MT-TS2
MT-TV
ND1
ND4
ND6
POLG
POLG1
RRM2B
TK2
TWINKLE (PEO1/C10orf2)

All tests are performed in Ayass BioScience, LLC. Ayass BioScience, LLC (DBA Ayass Lung Clinic, PLLC) is a CLIA certified laboratory. If you have any questions about Genetic Testing Next Generation Sequencing at Ayass BioScience, LLC, please call today at 972-668-6005 or fill out our contact form on the bottom of this page. We will answer any question you might have.