Test Catalog

Test ID: PDP    
Peroxisomal Disorder Panel by Next-Generation Sequencing, 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

 

Identifying mutations 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 includes next-generation sequencing and supplemental Sanger sequencing to evaluate the genes on this panel.

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel under FMTT / Familial Mutation, Targeted Testing, Varies. Call 800-533-1710 to obtain more information about this testing option.

 

See Targeted Genes Interrogated by Peroxisomal Disorder Panel in Special Instructions for details regarding the targeted genes identified by this test.

Highlights

This test uses next-generation sequencing to test for variants in the ABCD1, ABCD2, ABCD3, ACOX1, ACOX3, AGPS, AMACR, CAT, DNM1L, ECH1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, and TRIM37 genes.

 

This test may aid in diagnosis of peroxisomal disorders.

 

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

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

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

See clinical information for recommended first-tier biochemical testing.

 

If skin biopsy is received, fibroblast culture will be added and charged separately.

 

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

 

See Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy in Special Instructions.

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.

Yes

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

Peroxisomal Disorder Panel

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

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