nucSEEK® Spotlight Panels

by Courtagen Life Sciences, Inc.

What are Mitochondria?

Mitochondria are structures found in almost every cell in the body. They produce chemical energy, commonly referred to as the “powerhouse of the cell.” Mitochondria are necessary in the body to sustain life and support growth. 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.

What is Mitochondrial Disease?

Mitochondrial disorders occur in approximately 1 of every 4,000 individuals. Mitochondrial disorders are chronic, genetic disorders that occur when the mitochondria of the cell fails to produce enough energy for cell or organ function. There are many types of mitochondrial disorders and they present very differently from individual to individual. Symptoms typically involve multiple systems of the body. Symptoms are often intermittent, worsening under times of high energy demand such as physical or emotional stress, infection, and while undergoing medical procedures.

What are the symptoms of Mitochondrial Disorders?

Common symptoms include:

  • Seizures and other neurological problems
  • Autism spectrum disorders, autistic-like features
  • Developmental delays, learning disabilities
  • Dementia
  • Migraines
  • Heart, liver or kidney disease
  • Visual and/or hearing problems
  • Muscle weakness, poor muscle coordination
  • Poor growth, failure to thrive
  • Delayed gastric emptying
  • Chronic diarrhea or constipation
  • Cyclic vomiting
  • Diabetes
  • Thyroid and/or adrenal dysfunction

What are nucSEEK® Spotlight Panels?

Courtagen’s nucSEEK® Spotlight Panels are two highly targeted panels thatanalyze genes associated with classic mitochondrial disease and Leigh Syndrome.

Reflex to the nucSEEK Focus or nucSEEK Comprehensive Nuclear Mitochondrial panels for negative results. Methylation SNP add-on analysis is also available.

How can nucSEEK® Spotlight Panels help me manage my child’s condition?

Results from Courtagen’s nucSEEK® Spotlight Panels may identify known disease causing mutations in the nuclear DNA that cause mitochondrial disorders. 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.

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® Comprehensive Sequence Analysis 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.

FAQ’s

[accordion][accordion-item title="What is the process to submit a DNA sample for genetic testing?"]The process begins with your physician placing a test request. The lab will not accept a sample without a requisition from a licensed physician. Once a test requisition is received, a sample collection kit will be sent to your physician. The instructions for using our collection kit are here and are also included in every kit. The sample will be sent to the Courtagen Laboratory. Once testing is complete, Courtagen will provide a report to the ordering physician.[/accordion-item][accordion-item title="Can I use any other sample collection kit that is not provided by Courtagen?"]No! Our processes have been optimized and validated with the kits we provide.[/accordion-item][accordion-item title="If my physician ordered more than one test for me, do I have to provide a tube of saliva for each test?"]No. A single saliva collection will normally provide enough DNA to complete multiple tests. If we determine that we do not have enough DNA to perform the tests requested by your ordering physician, we will contact your physician to collect more sample.[/accordion-item][accordion-item title="Which completed forms must accompany my sample?"]The patient must submit a completely filled out and signed Informed Consent Form with their sample submission. The consent form will be used to match your sample to the ordering physician’s test requisition. Samples received without these forms cannot be processed.[/accordion-item][accordion-item title="Who will receive the test results?"]Courtagen will provide your test report to the physician or healthcare professional who ordered the test.[/accordion-item][accordion-item title="Why are the results of testing sent directly to the ordering physician rather than the patient or parent of a patient?"]Results are sent to the physician or healthcare professional to provide the physician with the opportunity to discuss the result interpretation and any follow-up testing with you.[/accordion-item][/accordion]