Coenzyme Q10 Ubiquinone Deficiency Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10297 APTX 81405,81479 Order Options and Pricing
COQ2 81479,81479
COQ4 81479,81479
COQ6 81479,81479
COQ8A 81479,81479
COQ8B 81479,81479
COQ9 81479,81479
ETFA 81479,81479
ETFB 81479,81479
ETFDH 81479,81479
PDSS1 81479,81479
PDSS2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10297Genes x (12)81479 81405, 81479 $890 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

Coenzyme Q10 (CoQ10) deficiency is associated with three major forms of clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction (steroid-resistant nephrotic syndrome), and an ataxic form with cerebellar atrophy (Desbats et al. 2015; Quinzii et al. 2006). Age of onset is variable from birth to the seventh decade. Accurate molecular diagnosis of Coenzyme Q10 deficiency is important for treatment.

Genetics

Coenzyme Q10 is an essential component of the mitochondrial respiratory chain and an antioxidant. Coenzyme Q10 deficiency is a group of autosomal recessive disorders (Desbats et al. 2015; Yubero et al. 2015). It can be caused by defects in the genes directly involved in the biosynthesis of Coenzyme Q10 (primary deficiency) or unrelated to Coenzyme Q10 biosynthesis (secondary deficiency) as listed below. The spectrum of pathogenic variants throughout these genes includes all types of changes (Human Gene Mutation Database).

Primary Coenzyme Q10 deficiency: PDSS1, PDSS2, COQ2, COQ4, COQ6, COQ9, ADCK3/COQ8A, and ADCK4/COQ8B

Secondary Coenzyme Q10 deficiency: APTX, ETFDH, ETFA, and ETFB

See individual gene test descriptions for more information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Screenings for pathogenic variants in the associated genes in a large cohort of patients with Coenzyme Q10 deficiency have not been reported. To date, studies have focused on individual genes in a limited number of families. Therefore, mutation detection rate of this panel is unknown.

Large deletions and/or duplications have been documented in the Human Gene Mutation Database (HGMD) in the following genes, but are relatively uncommon: ADCK3/COQ8A, COQ4, ETFDH, ETFA, and APTX.

No large deletions or duplications have been reported in the other 7 genes of the current panel.

Testing Strategy

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

This panel typically provides 99.6% 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).

Indications for Test

Candidates for this test are patients with Coenzyme Q10 deficiency either primarily or secondarily. This test especially aids in a differential diagnosis of similar phenotypes by analyzing multiple genes simultaneously.

Genes

Official Gene Symbol OMIM ID
APTX 606350
COQ2 609825
COQ4 612898
COQ6 614647
COQ8A 606980
COQ8B 615567
COQ9 612837
ETFA 608053
ETFB 130410
ETFDH 231675
PDSS1 607429
PDSS2 610564
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Desbats M.A. et al. 2015. Journal of Inherited Metabolic Disease. 38: 145-56. PubMed ID: 25091424
  • Human Gene Mutation Database (Bio-base).
  • Quinzii C. et al. 2006. American Journal of Human Genetics. 78: 345-9. PubMed ID: 16400613
  • Yubero D. et al. 2015. Expert Review of Molecular Diagnostics. 15: 1049-59. PubMed ID: 26144946

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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