Diagnostic testing for the disorders
About lysosomal storage disorders
The lysosomes are required for the breakdown of intracellular molecules and compounds of all sizes. The lysosomal interior is an acidic environment and contains several different enzymes. Defects in these lysosomal enzymes result in an accumulation of the substrate in the lysosome eventually disrupting tissue function leading to enlarged and impaired organs. The affected cell systems will vary with the disorder, but all disorders involve multiple organ systems.
Suspicion of a lysosomal storage disorder can come from the physical exam (e.g. organomegaly, skeletal abnormalities, corneal clouding, or coarse features) and developmental assessment. Developmental delay with regression and/or organ dysfunction that is progressive is a hallmark of a storage disorder. Progressive cardiac, renal, hematological, or nervous system dysfunction occurring in a younger population than is typical would also prompt consideration of these disorders (e.g. renal disease, arrhythmias, valve disease, stroke, and peripheral neuropathy).
There is usually a continuum of severity and LSDs without obvious dysmorphic features or developmental delay are underrecognized. Due to the overall rarity of these conditions and their clinical heterogeneity, lengthy diagnostic delays and missed diagnoses are common.
Mobile phlebotomy
Dried Blood Spot (DBS) sample collection is offered via mobile phlebotomy when on-site/in-clinic collection is difficult for a patient. Mobile phlebotomy is available for enzyme activity/biomarker tests and single gene sequencing (it is not available for multi-gene panel sequencing or familial variant tests; for these, patient self-collection can be arranged by Revvity Omics). Mobile phlebotomy is provided by ExamOne, a third-party service provider, and available for patients who:
- Have a medical condition, recent hospitalization, or recent surgery which restricts travel, or are otherwise immobile and unable to attend appointments outside the home.
- Lack access to transportation
- Do not live close to any draw sites
For more information, see below for a list of frequently asked questions. Please call Revvity Omics client services at 1-866-354-2910 for any additional questions or concerns.
- To take advantage of this service for your patient, requestors should complete the Mobile Phlebotomy Sample Collection Request section on the requisition form along with all other sections of the requisition form and send to Revvity Omics Client Services at Genomics@revvity.com.
- Once your order is received, ExamOne will contact the patient to coordinate the appointment and ship necessary materials for sample collection.
How to order
Step 1
Test selection and place order
Step 2
Specimen collection and shipment
Step 3
Get results
How to order
1. Test Selection and place order
Select the correct test for your patient, and fill out the appropriate Roadmap2Rare Requisition Form
- Please make sure that all sections are completed, and that the patient has signed the informed consent form
2. Specimen collection and shipment
Collection by the health care provider
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs. If you do not have a kit available in your office, please contact us here and we can have one sent out to your office.
- Ensure that the patient sample is labeled with the patient’s name and date of birth.
- Please note that all biochemical assays require a Dried Blood Spot (DBS) sample. Step-by-step instructions for collecting a sample can be found here.
- Samples may be submitted without a collection kit by following the guidelines for specimen requirements and completing the requisition form.
Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to Revvity Omics for processing.
- As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
- Collection coordinated by Revvity Omics
- On the requisition form you can request Revvity Omics coordinate mobile phlebotomy (available for enzyme activity/biomarker testing and single gene sequencing). Mobile phlebotomy can also be requested through the Client Portal, or through the kit order URL.
- Revvity Omics can arrange patient self-collection for tests performable from Saliva Swabs (multi-gene panel testing and familial variant testing). Patient self-collection can be requested through the Client Portal, or through the kit order URL.
- For mobile phlebotomy, a DBS kit is mailed to the patient ahead of their in-home collection appointment. For patient self-collection, a Saliva Swab kit is mailed to the patient with instructions for collecting the sample and mailing it back to Revvity Omics.
3. Get results
Once Revvity Omics receives the sample, you will receive phone call to report abnormal findings, with a written report to follow within the established turnaround time for the ordered test. Bundled tests will be reported together in one comprehensive result.
FAQs
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What sample collection types are available through mobile phlebotomy?
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Are there any limitations for pediatric patients?
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Is there any additional cost for mobile phlebotomy to the patient?
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What are the days/hours of availability for appointments, and are there any regions in Canada that are excluded?
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What if ExamOne is unable to get in touch with the patient to schedule the appointment?
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What does the patient need to provide at the time of appointment?
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Can the appointment be rescheduled if complications arise before or during?
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.