What is Functional Disorder?The theraSEEK™ panel includes a curated selection of genes primarily associated with genetic disorders that present with functional symptoms, and also genes in metabolic and physiologic pathways of interest. In addition to determining a genetic diagnosis, this panel can identify genetic risk factors for multifactorial functional disease.
What are the symptoms of Functional Disorder?Functional disorders encompass a wide range of phenotypes that can present with diverse and multi-system symptomatology. Some indications for testing are: chronic pain conditions (joint, bone, myalgia), autonomic dysfunction (dizziness, POTS, arrhythmias), gastrointestinal conditions (dysmotility, intermittent diarrhea or constipation, abdominal pain, recurrent vomiting, nausea, GERD), psychiatric / mood disorders (depression, anxiety, schizophrenia), abnormal movement (tics, tremor, dyskinesia, restless legs), migraine headache, fatigue/exercise intolerance, autistic spectrum disorder with additional functional symptoms, ADHD and other behavioural conditions, neuropathy/sensory deficits, sleep disturbance.
What are the benefits of theraSEEK™?The theraSEEK™ panel includes a curated selection of genes primarily associated with genetic disorders that present with functional symptoms, and also genes in metabolic and physiologic pathways of interest. In addition to determining a genetic diagnosis, this panel can identify genetic risk factors for multifactorial functional disease.
How does theraSEEK™ help guide treatment choices?Genetic testing using Next Generation Sequencing is a valuable tool for obtaining a definitive diagnosis in the patient, thereby providing insight to the prognosis, treatment choices, and recurrence risks for the family. Importantly, understanding the genetic basis of the patient’s condition can assist the clinician in developing a targeted personalized treatment plan, which may include medication, nutritional interventions, supplements, and other therapies or avoidance of certain agents.
What is the unique advantage of the theraSEEK™ test 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="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 theraSEEK™ performed"]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 IlluminaMiSeq next generation sequencing system with 250bp paired-end reads. Utilizing Courtagen’s customized ZiPhyr® 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 the theraSEEK™ result to be ready?"]4-6 weeks[/accordion-item][accordion-item title="What does theraSEEK™ 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) 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.
- Abnormal movement (tics, tremor,dyskinesia, restless legs)
- ADHD and other behavioral conditions
- Autistic spectrum disorders with additional functional symptoms
- Chronic pain (joint, bone, myalgia)
- Dizziness/Postural Orthostatic
- Tachycardia Syndrome
- GI conditions (dysmotility, intermittent diarrhea or constipation, abdominal pain, recurrent or cyclical vomiting, nausea)
- Intellectual disability
- Neuropathy/sensory deficits
- Sleep disturbance
- Psychiatric / mood disorders (depression, bipolar, anxiety, panic, schizophrenia)[/accordion-item]