Test Catalog

Test ID: PDGP    
Peroxisomal Disorder Gene Panel, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

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 Provides information that may help with selection of the correct genetic test or proper submission of the test request

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, TRIM37. See Method Description for additional details.


Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for peroxisomal disorders.


Additional first tier testing may be considered/recommended. For more information see Advisory Information.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Peroxisomal Disorder Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

Acyl-CoA oxidase deficiency
Alpha-methylacyl-CoA racemase deficiency; bile acid synthesis defect, congenital
Congenital bile acid synthesis defect-5
D-bifunctional enzyme deficiency; Perrault syndrome
Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
Glutaric aciduria III
Leukoencephalopathy with dystonia and motor neuropathy
Mulibrey nanism
Next Gen Sequencing Test
PDP peroxisome biogenesis disorder
Refsum disease
Rhizomelic chondrodysplasia punctata, type 2 (RCDP)
Rhizomelic chondrodysplasia punctate, type 1 (RCDP)
Rhizomelic chondrodysplasia punctate, type 3 (RCDP)
X linked adrenoleukodystrophy