by Courtagen Life Sciences, Inc.
devACT® 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 options. There 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.
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.
Benefits of devACT® Testing
The devACT™ Clinical Management test focuses on identification of genetic disorders that are treatable or that avoid lengthy, costly and/or invasive procedures. Positive test results directly impact the clinical management of the patient.
Detection of genetic disorders (e.g., inborn errors of metabolism) that are amenable to treatment can have a significant positive impact on the health, development, and quality of life for patients and their families.
The devACT™ test efficiently screens for many genetic disorders, eliminating the need for time consuming diagnostic work-ups, some involving invasive procedures such as lumbar puncture and MRI testing.
What is the unique advantage of devACT® 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.
[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™ 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™ result?"]4-6 weeks[/accordion-item][accordion-item title="What does a devACT™ result reveal to a patient?"]Courtagen’s bioinformatics pipeline analyzes genetic variants in 231 genes targeted in the devACT™ test. The genes in this panel were selected due to their association with treatable genetic disorders. Actionable findings are reported if at lease two variants are identified (or one variant is identified in a homozygous form) in a recessive gene, or if the variant identified is an X-linked recessive gene in a male. For dominant genes, single mutations are reported. If only one variant was identified, where two mutations are considered necessary to cause disease, the report will contain potential carrier status.[/accordion-item][accordion-item title="What symptoms/syndromes indicate that a patient is suitable for the devACT™ test?"]Developmental Delay (DD), Intellectual Disability (ID), Autism Spectrum Disorders (ASD) (See symptoms of DD, ID, ASD)[/accordion-item] [/accordion]