What is Mitochondrial Disease?Mitochondrial disorders occur in approximately 1 of every 4,000 individuals. Such disorders result from failures of the mitochondria, which are specialized organelles in the cell that act as the energy source for daily body activity. When mitochondria fail, less and less energy is generated within the cell. As a result, whole systems begin to fail, and the health of the person in whom this is happening is severely compromised. The disease primarily affects children, but can affect adults as well.
What are the symptoms of Mitochondrial Disorders?Diseases of the mitochondria cause the most damage to cells of high energy demand such as the brain, heart, liver, skeletal muscles, kidneys, and the endocrine, gastrointestinal, and respiratory systems. The type of disease that shows up as a result of mitochondrial dysfunction can vary from person to person, even within the same family. It often involves several body systems at once, and symptoms can be intermittent. There are multiple medical conditions and clinical problems that can be affected by mitochondrial dysfunction. Examples include, but are not limited to: developmental delays, autism spectrum disorders, seizures, migraines, muscle weakness, chronic fatigue, complex regional pain syndrome, and autonomic dysfunction (including cyclic vomiting syndrome).
What are the benefits of nucSEEK® Focus?Mitochondrial disorders are very diverse conditions and can affect one or multiple systems of the body. Mitochondrial dysfunction depletes cells of energy causing cell damage and even cell death. There are hundreds of genes in the nuclear DNA found to have an association with mitochondrial dysfunction. Courtagen’s nucSEEK® Focus test uses Next Generation Sequencing to detect variants in these nuclear genes.
How does nucSEEK® Focus help guide treatment choices?Courtagen’s nucSEEK® Focus panel helps clinicians obtain a definitive diagnosis, estimate prognosis, guide treatment choices, and determine recurrence risks. Reflex to the nucSEEK Focus or nucSEEK Comprehensive Nuclear Mitochondrial panels for negative results. Methylation SNP add-on analysis is also available.
What is the unique advantage of nucSEEK® Focus from Courtagen?Courtagen’s proprietary DREAM PCR process ensures superior lab decontamination and long sequencing reads result in exceptional coverage and sensitivity for the target genes in each panel. Courtagen’s high quality coverage exceeds that of shorter sequencing read tests and lower coverage whole exome sequencing (WES) approaches. Courtagen’s Clinical Team has over 25 years of experience in treatment and genetic interpretation of neurological disorders, and results are delivered in a concise clinical report to help determine diagnosis and assist with decisions about treatment and disease management.
nucSEEK® Focus FAQs[accordion][accordion-item title="How do I order a test?"]Please contact us and let us know if you would like to order a test for a patient. One of our representatives will get in touch with you and advise on the workflow, and provide the necessary forms and sample collection kits. Once the samples have been collected, we will coordinate the shipment of the sample to the laboratory. Once testing is completed, the report will be sent to you.[/accordion-item][accordion-item title="How is nucSEEK® Focus Test performed?"] This test is designed to sequence the exons and canonical splice sites (+/-10) of over 1,100 of the nuclear encoded mitochondrial genes as listed by MitoCarta at the time of development. Genomic DNA is extracted from the submitted sample (typically saliva), and captured with an inversion probe method for the genes specific to this panel. The captured targets are sequenced on the IlluminaMiSeqnext generation sequencing system with 250bp paired-end reads. Utilizing Courtagen’s customizedZiPhyr® informatics pipeline and thorough clinical evaluation, each report is provided in a concise format with interpretation and recommendations for physician consideration.[/accordion-item] [accordion-item title="How long does it take for a nucSEEK® Focus test result to be out?"]4-6 weeks[/accordion-item][accordion-item title="What does a nucSEEK® Focus result reveal to a patient?"] Courtagen’s bioinformatics and clinical teams complete an analysis of the genetic variants identified from the patient sample and correlate clinical genotype/phenotype information to provide a clinical report for the patient’s physician. Variants may be classified as positive (known disease causing mutation associated with epilepsy), negative (no disease causing mutations identified), or variant of unknown significance (VUS). A VUS indicates that a genetic variant was identified, but information is insufficient, and it is unclear if the variant has clinical significance. Additional testing of family members may be requested for further interpretation. A positive result provides a molecular diagnosis for what is otherwise typically a long and complex diagnostic work up.
- A genetic diagnosis provides knowledge about the progression of disease
- Identified genetic variants may guide targeted therapy
- Test results may determine whether other family members should be tested.
- Ataxia and spasticity
- Exercise intolerance and proximal myopathy
- Fluctuating encephalopathy
- Muscular weakness
- Ophthalmic findings (ptosis, external ophthalmoplegia, optic atrophy, retinopathy)
- Stroke-like episodes
- Sensorineural deafness