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Test 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).

 

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 2 in Special Instructions.

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/qPCR/Sanger Sequencing

Reporting Name

Lysosome, Peroxisome, GSD Panels

Specimen Type

Varies

Specimen 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

Yes

Reflex 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