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

PBD NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

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

N/A

CPT Codes

81479

Components

Component Test Code* Component Chart Name LOINC
3002701 Peroxisomal Disorders Specimen
3002702 Peroxisomal Disorders Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

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
Peroxisomal Disorder Panel, Sequencing