Peroxisomal Disorders Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10369 ABCD1 81405,81479 Order Options and Pricing
ABCD3 81479,81479
ACOX1 81479,81479
AGPS 81479,81479
AGXT 81479,81479
AMACR 81479,81479
CAT 81479,81479
DNM1L 81479,81479
GNPAT 81479,81479
HSD17B4 81479,81479
PEX1 81479,81479
PEX10 81479,81479
PEX11B 81479,81479
PEX12 81479,81479
PEX13 81479,81479
PEX14 81479,81479
PEX16 81479,81479
PEX19 81479,81479
PEX2 81479,81479
PEX26 81479,81479
PEX3 81479,81479
PEX5 81479,81479
PEX6 81479,81479
PEX7 81479,81479
PHYH 81479,81479
SCP2 81479,81479
TRIM37 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10369Genes x (27)81479 81405, 81479 $1030 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Peroxisomal disorders are genetically heterogeneous metabolic diseases, and are divided into peroxisomal biogenesis disorders and peroxisomal single protein defects.

Peroxisomal biogenesis disorders (PBDs) are caused by defects in peroxisome assembly and formation. Clinical features and biochemical findings are associated with multiple abnormal enzymatic pathways in peroxisomes. PBDs include Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum (PBD-ZSS) and PEX7-related disorders (rhizomelic chondrodysplasia punctata Type 1 and adult Refsum disease). PBD-ZSS consists of three related diseases (Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum’s disease (IRD)) that share overlapping phenotypes with severity ranging from ZS to IRD (Steinberg et al. 2017. PubMed ID: 20301621).

Peroxisomal single protein defects include X-linked adrenoleukodystrophy (X-ALD), PHYH-related adult Refsum disease, rhizomelic chondrodysplasia punctata type 2 and type 3, congenital bile acid synthesis defect-4 and -5, D-bifunctional enzyme deficiency, acyl-CoA oxidase deficiency (also called pseudoneonatal adrenoleukodystrophy), primary hyperoxaluria type 1, acatalasemia, leukoencephalopathy with dystonia and motor neuropathy, and Mulibrey nanism. X-ALD is the most common inherited peroxisomal disorder and affects 1 in 18,000 individuals (Wanders and Waterham. 2006. PubMed ID: 17055078).

Genetics

This NextGen test analyzes multiple genes involved in both peroxisomal biogenesis disorders and peroxisomal single protein defects. Except in the case of the ABCD1 and DNM1L genes, peroxisomal disorders are inherited in an autosomal recessive manner and caused by loss-of function variants in the relevant gene. X-linked adrenoleukodystrophy (ABCD1 gene) is inherited in an X-linked recessive manner. DNM1L-assocated diseases can be autosomal dominant secondary to dominant-negative missense variants (Waterham et al. 2007. PubMed ID: 17460227) or be a recessive disorder due to loss-of-function variants (Yoon et al. 2014. PubMed ID: 26825290).

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum (PBD-ZSS): PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, DNM1L

X-linked adrenoleukodystrophy (X-ALD): ABCD1

Rhizomelic chondrodysplasia punctate (RCDP): PEX7, GNPAT, AGPS

Adult Refsum disease (ARD): PHYH, PEX7

Congenital bile acid synthesis defect-5: ABCD3

Congenital bile acid synthesis defect-4: AMACR

D-bifunctional enzyme deficiency: HSD17B4

Acyl-CoA oxidase deficiency: ACOX1

Primary hyperoxaluria type 1: AGXT

Acatalasemia: CAT

Leukoencephalopathy with dystonia and motor neuropathy: SCP2

Mulibrey nanism: TRIM37

See individual gene test descriptions for detailed information on clinical features, molecular biology of gene products, and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in the PEX genes account for nearly all cases of clinically and biochemically diagnosed Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum (PBD-ZSS). The overall sensitivity of this sequencing panel test is predicted to be over 95% for DNA substitutions (missense, nonsense, splicing pathogenic variants), small insertions and/or deletions (frameshift and splice-site pathogenic variants) and gross deletions and duplications. PHYH pathogenic variants account for more than 90% of patients with Adult Refsum disease. PEX7-Related Adult Refsum disease is very rare, and less than 10 patients have been reported to date (Jansen et al. 2004. PubMed ID: 14974078). Over 99% of patients with X-linked adrenoleukodystrophy have ABCD1 pathogenic variants which can be detected by sequencing with copy number variant detection of gross deletions and duplications (http://www.x-ald.nl; Raymond et al. 2018. PubMed ID: 20301491). PEX7 pathogenic variants account for over 90% of all individuals with rhizomelic chondrodysplasia punctate (RCDP). The remaining 10% are caused by defects in GNPAT and AGPS (Braverman et al. 2012. PubMed ID: 20301447). To date, only about 20 patients with RCDP type 2 and less than 10 patients with RCDP type 3 have been reported (Thai et al. 2001. PubMed ID: 11152660; Itzkovitz et al. 2012. PubMed ID: 21990100). Other disorders covered by the panel are rare and the clinical sensitivity of this panel for these disorders is unknown.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 99.9% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Due to known ABCD1 pseudogenes, exons 7-10 of the ABCD1 gene are analyzed via Sanger sequencing.

Indications for Test

This test is appropriate for individuals with clinical symptoms or newborn screening results suggestive of a peroxisomal disorder. Carrier testing may also be considered for individuals with a known family history of a perixisomal disorder but no previous family testing.

Diseases

Name Inheritance OMIM ID
Acatalasemia AR 614097
Adrenoleukodystrophy XL 300100
Bile Acid Synthesis Defect, Congenital, 4 AR 214950
Bile Acid Synthesis Defect, Congenital, 5 AR 616278
D-Bifunctional Protein Deficiency AR 261515
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission AR, AD 614388
Leukoencephalopathy with Dystonia and Motor Neuropathy AR 613724
Mulibrey Nanism Syndrome AR 253250
Peroxisomal Acyl-CoA Oxidase Deficiency AR 264470
Peroxisome biogenesis disorder 10A (Zellweger) AR 614882
Peroxisome biogenesis disorder 11A (Zellweger) AR 614883
Peroxisome biogenesis disorder 11B AR 614885
Peroxisome biogenesis disorder 12A (Zellweger) AR 614886
Peroxisome biogenesis disorder 13A (Zellweger) AR 614887
Peroxisome Biogenesis Disorder 14B AR 614920
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) AR 601539
Peroxisome biogenesis disorder 2A (Zellweger) AR 214110
Peroxisome biogenesis disorder 2B AR 202370
Peroxisome biogenesis disorder 3A (Zellweger) AR 614859
Peroxisome biogenesis disorder 3B AR 266510
Peroxisome biogenesis disorder 4A (Zellweger) AR 614862
Peroxisome biogenesis disorder 4B AR, AD 614863
Peroxisome biogenesis disorder 5A (Zellweger) AR 614866
Peroxisome biogenesis disorder 5B AR 614867
Peroxisome biogenesis disorder 6A (Zellweger) AR 614870
Peroxisome biogenesis disorder 6B AR 614871
Peroxisome biogenesis disorder 7A (Zellweger) AR 614872
Peroxisome biogenesis disorder 7B AR 614873
Peroxisome biogenesis disorder 8A, (Zellweger) AR 614876
Peroxisome biogenesis disorder 8B AR 614877
Peroxisome Biogenesis Disorder 9B AR 614879
Primary Hyperoxaluria, Type I AR 259900
Refsum Disease, Classic AR 266500
Rhizomelic Chondrodysplasia Punctata Type 1 AR 215100
Rhizomelic Chondrodysplasia Punctata Type 2 AR 222765
Rhizomelic Chondrodysplasia Punctata, Type 3 AR 600121

Related Test

Name
PGxome®

Citations

  • Braverman et al. 2012. PubMed ID: 20301447
  • Itzkovitz et al. 2012. PubMed ID: 21990100
  • Jansen et al. 2004. PubMed ID: 14974078
  • Raymond et al. 2018. PubMed ID: 20301491
  • Steinberg et al. 2017. PubMed ID: 20301621
  • Thai et al. 2001. PubMed ID: 11152660
  • Wanders and Waterham. 2006. PubMed ID: 17055078
  • Waterham et al. 2007. PubMed ID: 17460227
  • Yoon et al. 2014. PubMed ID: 26825290

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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