devSEEK® Spotlight Panels

by Courtagen Life Sciences, Inc.

What is Neurodevelopmental Disorder?

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.

What are the 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 devSEEK® Spotlight Panels Testing?

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

How do devSEEK® 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 devSEEK® 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 devSEEK® 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 devSEEK® Spotlight Panels result to be released?"]4-6 weeks[/accordion-item][accordion-item title="What does a devSEEK® Spotlight Panels result reveal to a patient?"]Courtagen’s bioinformatics and clinical teams complete an analysis of the genetic variants identified from next generation sequencing of genes in the panel. The variant information is provided in a clinical report to 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 definitive diagnosis provides the following benefits:

  • Facilitates acquisition of needed services and support
  • Can empower families with the knowledge of the underlying genetic cause of a disorder
  • Provides possible identification of treatment opportunities to improve patient outcomes
  • Eliminates unnecessary and/or prolonged diagnostic testing[/accordion-item][accordion-item title="What symptoms/syndromes indicate that a patient is suitable for the devSEEK® Spotlight Panels test?"]Developmental Delay (DD), Intellectual Disability (ID), Autism Spectrum Disorders (ASD) (See symptoms of DD, ID, ASD)[/accordion-item] [/accordion]