Ordering Recommendation
Use to confirm a diagnosis of Zellweger spectrum disorder, rhizomelic chondrodysplasia punctata, and other heritable forms of peroxisomal dysfunction in symptomatic individuals. This test is not suitable for X-linked adrenoleukodystrophy/adrenomyeloneuropathy (ABCD1).
Mnemonic
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1.5 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Genes tested: ABCD3, ACBD5,* ACOX1, AGPS, AGXT, AMACR, DNM1L, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2*
*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
Hotline History
Hotline History
CPT Codes
81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3002701 | Peroxisomal Disorders Specimen | |
3002702 | Peroxisomal Disorders Interp |
Aliases
- bifunctional enzyme deficiency
- congenital bile acid synthesis defect
- defects of bile acid synthesis
- Heimler syndrome
- hyperoxaluria
- infantile Refsum disease
- Mitchell syndrome
- peroxisomal acyl-CoA oxidase deficiency
- Perrault syndrome
- PEX
- primary hyperoxaluria
- RCDP
- Refsum disease
- rhizomelic chondrodysplasia punctata
- Zellweger spectrum disorder
- Zellweger syndrome