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Test Catalog

Test ID: PGRBC    
Plasmalogens, Blood

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

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency

 

Evaluating patients with abnormal newborn screen results for X-linked adrenoleukodystrophy who appear to have a different type of peroxisomal disorder, such as a Zellweger syndrome spectrum disorder.

 

An aid in the assessment of peroxisomal function

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

This test measures plasmalogens and plasmalogen to fatty acid ratios for the purpose of diagnosis of peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency.

Highlights

This test analyzes plasmalogens and plasmalogen to fatty acid ratios. Reports include concentrations of C16:0, C18:0 and C18:1 plasmalogens and the ratio of the C16:0 and C18:0 plasmalogens to the respective fatty acid.

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

Gas Chromatography-Mass Spectrometry (GC-MS)

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

No

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

Plasmalogens, RBC

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

Rhizomelic Chondrodysplasia Punctata
Fatty Acyl-CoA Reductase 1 Deficiency
Peroxisomal Biogenesis Disorder
Zellweger syndrome
RCDP
RCP
FAR1 Deficiency
PEX disorder
Neonatal ALD
Infantile Refsum
Refsum disease