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 is lysoSEEK™?

Courtagen’s lysoSEEK™ panel seeks out enzymatic deficiencies in the lysosomes, and looks at additional genes useful for differential diagnoses.

How can lysoSEEK™ help me manage my child’s condition?

Prompt diagnosis of a lysosomal disorder (within the first year) 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=”What is the process to submit a DNA sample for genetic testing?”]The process begins with your physician placing a test request. The lab will not accept a sample without a requisition from a licensed physician. Once a test requisition is received, a sample collection kit will be sent to your physician. The instructions for using our collection kit are here and are also included in every kit. The sample will be sent to the Courtagen Laboratory. Once testing is complete, Courtagen will provide a report to the ordering physician.[/accordion-item][accordion-item title=”Can I use any other sample collection kit that is not provided by Courtagen?”]No! Our processes have been optimized and validated with the kits we provide.[/accordion-item][accordion-item title=”If my physician ordered more than one test for me, do I have to provide a tube of saliva for each test?”]No. A single saliva collection will normally provide enough DNA to complete multiple tests. If we determine that we do not have enough DNA to perform the tests requested by your ordering physician, we will contact your physician to collect more sample.[/accordion-item][accordion-item title=”Which completed forms must accompany my sample?”]The patient must submit a completely filled out and signed Informed Consent Form with their sample submission. The consent form will be used to match your sample to the ordering physician’s test requisition. Samples received without these forms cannot be processed.[/accordion-item][accordion-item title=”Who will receive the test results?”]Courtagen will provide your test report to the physician or healthcare professional who ordered the test.[/accordion-item][accordion-item title=”Why are the results of testing sent directly to the ordering physician rather than the patient or parent of a patient?”]Results are sent to the physician or healthcare professional to provide the physician with the opportunity to discuss the result interpretation and any follow-up testing with you.[/accordion-item][/accordion]