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HelpTest ID: PDGP Peroxisomal Disorder Gene Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel is available. For more information see CGPH/ Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot
Specimen Stability Information: Ambient (preferred)/Refrigerated
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.
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Cultured fibroblast
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.
Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Blood spot
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper or blood spot collection card
Specimen Volume: 5 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information:
1. Due to lower concentration of DNA yielded from blood spot, it is possible that additional specimen may be required to complete testing.
2. For collection instructions, see Blood Spot Collection Instructions
3. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
4. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient 30 days
Additional Information: Due to lower concentration of DNA yielded from saliva, it is possible that additional specimen may be required to complete testing.
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:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Biochemical Disorders Patient Information (T527)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder
Establishing a molecular diagnosis for patients with peroxisomal disorders
Identifying variants within genes known to be associated with peroxisomal disorders, allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 28 genes associated with peroxisomal disorders: ABCD1, ABCD3, ACOX1, ACOX3, AGPS, AMACR, CAT, DNM1L, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, and TRIM37. See Targeted Genes and Methodology Details for Peroxisomal Disorder Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for peroxisomal disorders.
Testing Algorithm
For skin biopsy or cultured fibroblast specimens, fibroblast culture testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
For more information see Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
Peroxisomal Disorder Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Peroxisomes are responsible for catabolic actions of cells, including beta oxidation of very long-chain fatty acids, and anabolic actions, including biosynthesis of bile acids and plasmalogens. Peroxisomal disorders can be categorized into 2 major groups based on the function that is disrupted: peroxisomal biogenesis disorders and single peroxisomal enzyme deficiencies.
Peroxisomal biogenesis disorders are caused by defective assembly of the organelle resulting in some amount of deficient functional peroxisomes. Severity of disease is dependent on amount of remaining functional peroxisomes. Peroxisomal biogenesis disorders include those in the Zellweger spectrum: Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. Clinical features are usually progressive and include developmental delay, liver disease, blindness, and deafness. Severity is variable with Zellweger syndrome being the most severe and infantile Refsum disease being the least severe.
These are due to variants in the PEX genes that are responsible for encoding proteins for peroxisome assembly.
Peroxisomal enzyme deficiencies cause a disruption in peroxisomal function, although the organelles remain intact. The most common peroxisomal disorder, X-linked adrenoleukodystrophy, is an enzyme deficiency due to variants in the ABCD1 gene. Other enzyme deficiencies include rhizomelic chondrodysplasia type 2 and 3, and congenital bile acid synthesis defect.
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This panel includes sequencing of 30 genes related to both peroxisomal biogenesis disorders and enzyme deficiencies.
Reference Values
An interpretive report will be provided.
Interpretation
All detected alterations are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
2. Waterham, HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 2012;1822(9):1430-1441
3. Wanders RJ. Metabolic and molecular basis of peroxisomal disorders: a review. Am J Med Genet A. 2004;126A(4):355-375
4. Wanders RJ, Waterham HR: Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta. 2006;1763(12):1707-1720
5. Fidaleo M. Peroxisomes and peroxisomal disorders: the main facts. Exp Toxicol Pathol. 2010;62(6):615-625
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81443
88233-Tissue culture, skin, solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PDGP | Peroxisomal Disorder Gene Panel | 105264-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 608560 | Test Description | 62364-5 |
| 608561 | Specimen | 31208-2 |
| 608562 | Source | 31208-2 |
| 608563 | Result Summary | 50397-9 |
| 608564 | Result | 82939-0 |
| 608565 | Interpretation | 69047-9 |
| 608566 | Resources | 99622-3 |
| 608567 | Additional Information | 48767-8 |
| 608568 | Method | 85069-3 |
| 608569 | Genes Analyzed | 48018-6 |
| 608570 | Disclaimer | 62364-5 |
| 608571 | Released By | 18771-6 |
Day(s) Performed
Varies
Report Available
14 to 21 daysReflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
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