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HelpTest ID LPGD Lysosomal, Peroxisomal, Glycogen, and Neuronal Ceroid Lipofuscinosis Panels, Next-Generation Sequencing, Varies
Advisory Information
For neuronal ceroid lipofuscinosis: First-tier biochemical testing is available for the 2 most common types of enzyme deficiency: TPPTL / Tripeptidyl Peptidase 1 (TPP1) and Palmitoyl-Protein Thioesterase 1 (PPT1), Leukocytes.
For peroxisomal disorders: Preliminary biochemical testing may be helpful in making a diagnosis. See POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
The specific metabolic panel desired must be identified in order to perform this test.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Clinic Laboratories for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Cultured fibroblasts
Container/Tube: T-75 or T-25 flask
Specimen Volume: 1 Full T-75 or 2 full T-25 flasks
Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request; Eagle's minimum essential medium with 1% penicillin and streptomycin.
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions
Useful For
Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage diseases, neuronal ceroid lipofuscinoses (Batten disease), peroxisomal disorders, or glycogen storage diseases
Identifying mutations within genes known to be associated with lysosomal storage diseases, neuronal ceroid lipofuscinoses (Batten disease), peroxisomal disorders, or glycogen storage diseases, allowing for predictive testing of at-risk family members
Genetics Test Information
This test includes next-generation sequencing and Sanger sequencing to evaluate the genes on this panel including detection of large deletions and duplications.
This ordered service includes the option for 1 of the following metabolic panels:
-Lysosomal Storage Disease Panel (58 genes)
-Neuronal Ceroid Lipofuscinosis (Batten Disease) Panel (15 genes)
-Peroxisomal Disorder Panel (30 genes)
-Glycogen Storage Disease Panel (26 genes)
-Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels)
-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1
Risk alleles for Parkinson disease with no known enzyme reduction or lysosomal storage disease association will only be reported in patients over 18 years old. Polymorphisms are available upon request for all patients.
See Targeted Genes for Lysosome, Peroxisome, GSD Panels in Special Instructions for details regarding the targeted genes for each test.
Highlights
This test uses next-generation sequencing to test for variants, including large deletions and duplications, in the genes indicated.
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling for lysosomal storage disease, neuronal ceroid lipofuscinoses (Batten disease), peroxisomal disorders, or glycogen storage disease.
Testing Algorithm
See Advisory Information for recommended first-tier biochemical testing.
If skin biopsy is received, fibroblast culture will be added and charged separately.
This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).
The following algorithms are available in Special Instructions
Special Instructions
- Molecular Genetics: Biochemical Disorders Patient Information
- Informed Consent for Genetic Testing
- Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
- Informed Consent for Genetic Testing (Spanish)
- Targeted Genes for Lysosome, Peroxisome, GSD Panels
- Lysosomal Storage Disorders Diagnostic Algorithm, Part 2
Method Name
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/qPCR/Sanger Sequencing
Reporting Name
Lysosome, Peroxisome, GSD PanelsSpecimen Type
VariesSpecimen Minimum Volume
Blood: 1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Performed weekly, Varies
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81403 (if appropriate)
81404 (if appropriate)
81405 (if appropriate)
81406 (if appropriate)
81407 (if appropriate)
81479 (if appropriate)
81443 (if appropriate)
88233 (if appropriate)
88240 (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| LPGD | Lysosome, Peroxisome, GSD Panels | 51991-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MG122 | Client Provided Sub-Panel | 19145-2 |
| MG123 | Gene List ID or NA | 48018-6 |
| 605165 | Result Summary | 50397-9 |
| 605166 | Result | 82939-0 |
| 605167 | Interpretation | 69047-9 |
| 605168 | Additional Information | 48767-8 |
| 605169 | Method | 49549-9 |
| 605170 | Disclaimer | 62364-5 |
| 605171 | Specimen | 31208-2 |
| 605172 | Source | 31208-2 |
| 605173 | Released By | 18771-6 |
NY State Approved
YesReflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
| G158 | Lysosomal Storage Disease Panel | No, (Bill Only) | No |
| G159 | NCL (Batten Disease) Panel | No, (Bill Only) | No |
| G160 | Peroxisomal Disorder Panel | No, (Bill Only) | No |
| G161 | Glycogen Storage Disease Panel | No, (Bill Only) | No |
| G145 | Hereditary Custom Gene Panel Tier 1 | No, (Bill Only) | No |
| G146 | Hereditary Custom Gene Panel Tier 2 | No, (Bill Only) | No |
| G147 | Hereditary Custom Gene Panel Tier 3 | No, (Bill Only) | No |
| G148 | Hereditary Custom Gene Panel Tier 4 | No, (Bill Only) | No |
| G149 | Hereditary Custom Gene Panel Tier 5 | No, (Bill Only) | No |