- Peroxisome biogenesis disorders, also called Zellweger syndrome spectrum (PBD, ZSS) that include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).
- X-linked adrenoleukodystrophy and adrenomyeloneuropathy.
- Rhizomelic Chondrodysplasia Punctata, Types 1, 2, and 3.
- Refsum Disease or phytanoyl-CoA hydroxylase deficiency.
- Acyl-CoA oxidase (ACOX1) deficiency.
- D-bifunctional protein (DBP) deficiency
- 2-Methylacyl-CoA racemase (AMACR) deficiency.
- Hyperoxaluria Type 1 or alanine glyoxylate aminotransferase deficiency.
- Mulibrey nanism.
- Sterol carrier protein X (SCP2) deficiency.
- DNM1L-related encephalopathy.
- ABCD3-related congenital bile acid synthesis defect
This test is indicated for:
- Confirmation of a clinical/biochemical diagnosis of peroxisomal disorders.
- Carrier testing in adults with a family history of peroxisomal disorders.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 10 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Peroxisome Disorders: Sequencing Panel
- Individual gene sequencing and deletion/duplication analysis are available for the following genes: ABCD1, PEX1, PEX2, PEX3, PEX5, PEX6, PEX12, PEX14, and PEX26