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 a number of 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.
New York State approval for testing
New York State Public Health Law and Regulations require samples that are collected from patients within New York State be tested by a clinical laboratory that holds proper New York licensing. Due to the rarity of many genetic conditions, laboratories may not hold proper licensing for all testing options available. However, there can be justification for requesting laboratory testing from a facility that does not hold the specific disease testing permits.
NY State Approval status – Lantern Project
| Test code | Test name | NYS approved? |
|---|---|---|
| SAN006 | Alpha-Galactosidase A Enzyme (Fabry) | Yes |
| SAN007 | GLA Gene Sequencing | Yes |
| SAN008 | Glucocerebrosidase Enzyme (Gaucher) | Yes |
| SAN009 | GBA Gene Sequencing | Yes |
| SAN001 | Sanofi MPS Enzyme Panel (MPS I, MPS II, MPS IIIB, MPS IVA, MPS IVB, MPS VI, MPS VII) | Yes |
| SAN010 | Alpha-L-Iduronidase Enzyme (Hurler) | Yes |
| SAN011 | IDUA Gene Sequencing | Yes |
| SAN012 | Acid Sphingomyelinase Enzyme (Niemann Pick) | Yes |
| SAN013 | SMPD1 Gene Sequencing | Yes |
| SAN014 | Acid Alpha-Glucosidase Enzyme (Pompe) | Yes |
| SAN015 | GAA Gene Sequencing | Yes |
| SAN003 | GAA Expedited Gene Sequencing | Yes |
| SAN004 | Gaucher Lyso-GL1 (GB1) | Yes |
| SAN005 | Fabry Lyso-GL3 (GB3) | Yes |
| SAN200 | Focused Neuromuscular Disease Panel | Yes |
Mobile phlebotomy
Sample collection via mobile phlebotomy is offered when on site collection is difficult for a patient. This service 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 FAQs. Please call Revvity Omics client services at 1-866-354-2910 for any additional questions or concerns.
Once your order is received, ExamOne will contact the patient to coordinate the appointment and ship necessary materials for sample collection.
To take advantage of this service for your patient, providers 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.
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 Lantern Project 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
- 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 sample or whole blood. 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.
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.
- What sample collection types are available through mobile phlebotomy?
There are two sample options that are available through mobile phlebotomy sample collection, whole blood, and Dried Blood Spot (DBS). At time-of-service request by the provider, the provider will also need to request either a whole blood pack or DBS sample pack.
- Are there any limitations for pediatric patients?
DBS sample collection and venipuncture collection using a whole blood back is available to patients 13 years and older.
- What if the sample is being collected in the state of New York?
Poviders in New York can follow the standard process for submitting an order. Please be sure to send all New York specific paperwork along with the requisition to ExamOne as it’s required by the lab for sample processing.
- Is there any additional cost for mobile phlebotomy to the patient?
No, mobile sample collection is included with the sponsored testing at no cost to the patient.
- What are the days/hours of availability for appointments, and are there any regions in the US that are excluded?
Appointments can be scheduled to Monday-Friday 7AM-1PM EST.
Phlebotomists are available throughout the US, but some rural areas may need additional time for scheduling.
- What if ExamOne is unable to get in touch with the patient to schedule the appointment?
ExamOne will make 3 attempts to reach the patient. If they are unable to get in touch with the patient to schedule an appointment, ExamOne will contact the provider requesting the service to discuss further steps.
- What does the patient need to provide at the time of appointment?
The patient will be asked to provide identification to the examiner.
- Can the appointment be rescheduled if complications arise before or during?
Yes, once an appointment is scheduled, ExamOne will provide a scheduling coordinator’s number to use for any scheduling needs before the appointment. If any issues arise during the appointment that ExamOne is unable to immediately resolve, ExamOne will notify Revvity Omics of the unsuccessful collection and determine how to move forward. The appointment can be re-scheduled if necessary.