exoSEEK® Whole Exome Sequencing Test for Genetic Disorders


Exome capture and next generation sequencing for the analysis of genes known to be associated with genetic disorders

Whole exome sequencing (WES) has been shown to identify the genetic cause of a patient’s symptoms in approximately 25% of cases overall, and up to as much as 48% of cases for certain indications. The American College of Medical Genetics and Genomics (ACMG) recommends considering WES testing for patients who have a likely genetic diagnosis that may be caused by any one of a large number of genes. WES testing involves the capture of the entire coding region of the genome, covering approximately 20,000 genes, or about 1%-2% of the genome. Courtagen’s exoSEEK Whole Exome Sequencing test employs trio analysis – fully sequencing both parent’s samples along with the patient’s sample. This enables determination of inheritance across all identified variants, rather than just for selected variants. 

exoSEEK® Whole Exome Sequencing Test: Designed to evaluate all possible genes that may cause a patient’s symptoms, the exoSEEK Whole Exome Sequencing test employs powerful bioinformatics, trio analysis, and the clinical expertise at Courtagen to deliver extensive genetic analysis and meaningful reporting of likely disease-causing variants in patients with a large range of phenotypes. For ease and convenience, the test can be performed with simple saliva samples from the patient and patient’s parents.

Indications for Testing

Indications
Indications
Autism spectrum disorder
Retinal and other eye disorders
Developmental delay
Hearing loss
Intellectual disability
Ataxia and other neuromuscular disorders
Cognitive Impairment
Multiple congenital anomalies
Dysmorphic featuresCardiac and cardiovascular disorders
Skeletal abnormalitiesGrowth disorders and connective tissue disorders


Product Information Sheet

exoSEEK® Whole Exome Sequencing Test


Courtagen's Unmatched Customer Support

Turn Around Time: 10-14 weeks. Results are delivered in weeks, not months.

Saliva Sample: DNA for sequencing is reliably extracted from a single saliva sample. No blood draw or muscle biopsy required. (Whole blood and tissue are accepted, as requested.)

Insurance Assistance: Courtagen works with patients, physicians, and insurance carriers to pre-approve each test. Courtagen will bill the insurance company, and is willing to handle an appeal process as needed.

Courtagen Care Financial Assistance Program: Provides financial assistance to patients based on demonstrated financial need. A qualified applicant may be asked to contribute between $0 and a maximum cost sharing of $200 depending on determination of financial need.

Online Portal: A secure physician online portal is available for ordering genetic tests and accessing patient reports when completed.

Genetic Counselors: Available to address physician’s questions regarding Courtagen test results. Contact us at clinical@courtagen.com.

Clinical Experience: Courtagen’s Medical Director, Laboratory Director, and variant science team have over 25 years of experience in the treatment and genetic interpretation of neurological and metabolic disorders.

Reports: Utilizing Courtagen’s customized Ziphyr® informatics pipeline and thorough clinical evaluation, each report is provided in a concise format with interpretation and recommendations for consideration.

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