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COASY Protein-Associated Neurodegeneration via the COASY Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
5267 COASY 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5267COASY81479 81479,81479 $890 Order Options and Pricing

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn 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

  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

COASY protein-associated neurodegeneration (CoPAN) is a rare type of neurodegeneration with brain iron accumulation (NBIA), type 6. Major features include progressive spasticity and dystonia from early childhood, followed by oro-mandibular dystonia with dysarthria, parkinsonism, axonal neuropathy and cognitive impairment. The COASY gene is in the same metabolic pathway as PANK2, therefore, COASY protein-associated neurodegeneration patients display similar clinical features to Pantothenate kinase-associated neurodegeneration (PKAN) patients (Levi and Finazzi 2914). Hallmark features in brain MRI show iron deposition in the globus pallidus and substantia nigra with hypo intensities (Dusi et al 2014).

Genetics

Pathogenic variants in COASY are causative for COASY protein-associated neurodegeneration (CoPAN) which is inherited in an autosomal recessive manner. The COASY gene encodes coenzyme A synthase, which is involved in fatty acid metabolism. Coenzyme A synthase is localized to the mitochondrial matrix, and is a bifunctional enzyme catalyzing the final two steps of CoA synthesis (Arber et al 2016). Pathogenic variants in COASY include missense and nonsense only. To date, no large deletions/duplications have been reported (Dusi et al 2014; Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

COASY protein-associated neurodegeneration (CoPAN) is a rare disorder, and clinical sensitivity cannot yet be estimated. Analytical sensitivity should be high because all pathogenic variants thus far reported are expected to be detected by sequencing.

Testing Strategy

Additional Sanger sequencing is performed for any regions not captured or with insufficient number of sequence reads.

This test provides full coverage of all coding exons of the COASY gene 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 full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test include patients with symptoms suspicious for neurodegeneration with brain iron accumulation type 6. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in COASY.

Gene

Official Gene Symbol OMIM ID
COASY 609855
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Neurodegeneration With Brain Iron Accumulation 6 AR 615643

Citations

  • Arber C.E. et al. 2016. Neuropathology and Applied Neurobiology. 42: 220-41. PubMed ID: 25870938
  • Dusi et al. 2014. PubMed ID: 24360804
  • Human Gene Mutation Database (Bio-base).
  • Levi and Finazzi 2014. PubMed ID: 24847269

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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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