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Comprehensive Peroxisomal Genes NGS Panel
This panel provides an comprehensive molecular assessment across multiple phenotypes. Discrimination between most of these dirorders is possible through biochemical analysis; however, some patients have equivocal blood metabolite levels and may need further metabolic testing in cultured fibroblasts or DNA testing to make a final diagnosis.
Phenotypes covered by this panel include:
Neonatal Refsum Disease and Adult Refsum Disease
Rhizomelic Chondrodysplasia Punctata, Types 1, 2, and 3
Peroxisomal Beta-Oxidation Defects
and several rare single peroxisomal enzyme defects
Autosomal Recessive; Autosomal Dominant
Missense mutations may be associated with milder clinical and biochemical phenotypes; however, this can be specific to certain mutations in certain genes.
Next Generation Sequencing (NGS) of the coding regions and intron-exon boundaries of the listed genes; Deletion/Duplication: Dosage analysis by normalization of NGS read depth for the listed genes (except DNM1L); Sanger sequencing for potential fill in / confirmation
This test is a compilation of several NGS panels for peroxisomal disorders.
Discrimination between multiple peroxisomal disorders when biochemical analysis is unclear or unavailable; identification of causative mutations in known or highly suspicious cases; facilitate targeted carrier testing of relatives of proband and/or predictive prenatal testing.
The clinical sensitivity of this panel is dependent on the phenotype of the patient and the genes in which pathogenic variants are reported. The following are general clinical sensitivity ranges: Acatalasemia: >98%; AMACR deficiency: >98%; Mulibrey Nanism: <10%; Primary hyperoxaluria type 1: >97%; Rhizomelic Chondrodysplasia Punctata: >98%; Refsum Disease: >98%; Zellweger Spectrum Disorder: >98%; Peroxisomal ß-oxidation defects: >98%. For more detailed clinical sensitivity information, please see the individual panel web pages.
> 99% for inherited single nucleotide and small insertion/deletion variants for the nucleotides evaluated; >99% for multi-exon deletions and >98% for single exon deletions; >90% for multi-exon duplications and >75% for single exon duplications.Lower limit of detection for single nucleotide variants: 25% allele frequency (>99% sensitivity).
We prefer whole blood for all tests.
Turn Around Time
Sequencing: 5-6 weeks
Fee and CPT Codes
NGS Panel: $4104 for routine testing
CPT Code: 81479 x 24
We request that copies of the patient's biochemical analysis be submitted with the sample.
Digenic inheritance (disease caused by mutations in 2 different PEX genes) has not been reported, but remains a theoretical possibility.
This test is a compilation of several NGS panels for peroxisomal disorders
INFORMED CONSENT from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.