nucSEEK® Spotlight Panels
by Courtagen Life Sciences, Inc.
What is Mitochondrial Disorders?
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).
How does nucSEEK® Spotlight Panels help guide treatment choices?
Understanding the genetic cause of a patient’s mitochondrial disorder can help clinicians obtain a definitive diagnosis, estimate prognosis, determine recurrence risks, and guide treatment choices
What is the unique advantage of nucSEEK® Spotlight Panels 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.
[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® Spotlight Panels 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® Spotlight Panels result?"]4-6 weeks[/accordion-item][accordion-item title="What does a nucSEEK® Spotlight Panels 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.
[/accordion-item][accordion-item title="What symptoms/syndromes indicate that a patient is suitable for the nucSEEK® Spotlight Panels test?"]
- Seizures and other neurological problems
- Muscle weakness, poor muscle coordination
- Autism spectrum disorders, autistic-like features
- Poor growth, failure to thrive
- Developmental delays, learning disabilities
- Delayed gastric emptying
- Chronic diarrhea or constipation
- Cyclic vomiting
- Heart, liver or kidney disease
- Visual and/or hearing problems
- Thyroid and/or adrenal dysfunction