3002700
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Peroxisomal Disorder Panel, Sequencing

PBD NGS
Example Reports
Negative
Positive

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Peroxisomal Disorders Patient History Form

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Informed Consent for Genetic Testing (Required for NY Patients)

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Additional Technical Information

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).

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

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)
New York State Clients: 5 mL (Min: 3 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: 2 weeks; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

Refer to 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.

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

Hotline History

N/A

CPT Codes

81479

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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