devACT® Spotlight Panels

by Courtagen Life Sciences, Inc.

devACT® Spotlight Panels Clinical Management Panel for Neurodevelopment Disorders

Courtagen’s devACT™ Clinical Management Panel for Neurodevelopment Disorders provides an efficient screen of over 200 genes that can inform meaningful treatment optionsThere are many treatable genetic disorders (e.g., inborn errors of metabolism) that can contribute to developmental and intellectual disability, including autism spectrum disorder. An efficient genetic screen using devACT™ can quickly identify treatable conditions, avoiding both costly and invasive alternative diagnostic procedures. Treatment for inborn errors of metabolism can significantly improve prognosis.

Neurodevelopmental Disorders

Common neurodevelopmental disorders encompassed in this test include developmental delay (DD), intellectual disability (ID), and autism spectrum disorders (ASD). Developmental delay and intellectual disability occur in up to 3% of the general population. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades.

Symptoms of Neurodevelopmental Disorders (DD, ID, ASD)

Developmental delay is typically used to describe children under the age of 6 years who have significant delay (as compared to age matched peers). Many of these children are later diagnosed with intellectual disability. Intellectual disability is characterized by an intelligence quotient (IQ) of 70 or below, and deficits in behaviors related to adaptive functioning. Autism spectrum disorders are characterized by difficulties in social interaction, communication, and repetitive behaviors. The level of intellectual functioning is extremely variable in persons with ASD, ranging from profound impairment to superior non-verbal cognitive skills. It is estimated that around 50% of persons with ASD also suffer from an intellectual disability. 

What are the benefits of devACT® Spotlight Panels Testing?

Courtagen’s Spotlight™ panels provide a targeted approach to genetic testing when a patient’s symptomology is discernable.

How do devACT® Spotlight Panels help guide treatment choices?

Knowing the genetic basis of a patient’s condition is valuable for obtaining a definitive diagnosis, estimating prognosis, determining recurrence risks, and guiding treatment choices. In many cases, the precise genetic diagnosis can be important in therapy selection, particularly when there are known contraindications or recommended treatment options based on genetic results.

Reflex to the devSEEK Neurodevelopmental panel or devACT Clinical Management panel for negative results. Methylation SNP add-on test and Del/Dup add-on analysis are also available.

What is the unique advantage of devACT® Spotlight Panels Clinical Management 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.

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 devACT® Spotlight Panels performed?"]This test was designed to sequence the exons and canonical splice sites (+/-1,2) of over 200 genes that can inform meaningful treatment options while potentially avoiding both costly and invasive alternative diagnostic procedures. For this test, genomic DNA is extracted from the sample submitted (typically saliva) and captured with an inversion probe method for the genes specific to this panel. This captured target was sequenced on Illumina MiSeq 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 a devACT® Spotlight Panels result to be released?"]4-6 weeks[/accordion-item][accordion-item title="What does a devACT® Spotlight Panels 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.[/accordion-item][accordion-item title="What symptoms/syndromes indicate that a patient is suitable for the devACT® Spotlight Panels test?"]Developmental Delay (DD), Intellectual Disability (ID), Autism Spectrum Disorders (ASD) (See symptoms of DD, ID, ASD)[/accordion-item] [/accordion]