by Courtagen Life Sciences, Inc.
What is Lysosomal Storage Disorder?
Lysosomal storage disorders are inherited metabolic disorders in which enzyme deficiencies cause an abnormal build-up of various toxic materials in the body’s cells. There are dozens of these disorders, which may affect several different parts of the body, including the skeleton, brain, skin, heart, and central nervous system.
What are the symptoms of Lysosomal Storage Disorder?
Signs and symptoms vary from disease to disease in this group; however symptoms occur in each case because of an enzyme deficiency that inhibits lysosomes from performing their normal function.
What are the benefits of lysoSEEK™?
Courtagen’s lysoSEEK™ panel provides extensive genetic analysis and clinical interpretation of data generated by the complete sequencing of 94 genes associated with close to 60 metabolic disorders. The test seeks out enzymatic deficiencies in the lysosomes, and looks at additional genes useful for differential diagnoses.
How does lysoSEEK™ help guide treatment choices?
Lysosomal storage disorders are part of the differential diagnosis of several, diverse perinatal and childhood phenotypes, which are extremely variable in both onset and clinical severity. Prompt diagnosis (within the first year), including genetic testing, may enable early treatment (e.g. enzyme replacement therapy), possibly preventing irreversible clinical consequences.
What is the unique advantage of lysoSEEK™ 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 lysoSEEK™ 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 lysoSEEK™ result to be released?"]4-6 weeks[/accordion-item][accordion-item title="What does a lysoSEEK™ result reveal to a patient?"]Courtagen’s bioinformatics and clinical teams complete an analysis of the genetic variants identified from next generation sequencing of the genes from the patient sample. 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 prompt diagnosis that may enable early treatment and possibly prevent irreversible clinical consequences.
- 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 lysoSEEK™ test?"]
- Failure to Thrive
- Developmental Delay
- Corneal Clouding
- Developmental Regression
- Oral Findings (E.G. Macroglossia, Molas Hypoplasia, Hypertrophic Gums)
- Stiff Joints
- Recurrent Respiratory Infections
- Dysotosis Multiplex
- Endocrine Dysfunction
- Skeletal Abnormalities
- Facial Dysmorphishm
- Exaggerated Startle
- Cardiovascular Abnormalities
- Other Indications