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Mitochondrial Membrane Protein-Associated Neurodegeneration via the C19orf12 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
9131 C19orf12 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9131C19orf1281479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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

Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN) is the third common type of Neurodegeneration with Brain Iron Accumulation (NBIA). It has childhood onset, but occurs across all age groups. The manifestations include cognitive decline, progressive dementia, prominent neuropsychiatric abnormalities, motor neuronopathy, spasticity, dysarthria, dystonia, Parkinsonism and optic atrophy. Brain MRI shows iron accumulation in both globus pallidus and substantia nigra. Cortical and cerebellar atrophy are also common (Hogarth  et al. 2013; Arber et al 2016).

Genetics

Mitochondrial membrane Protein-Associated Neurodegeneration is inherited in an autosomal recessive manner and is caused by pathogenic variants in the C19orf12 gene. The protein C19orf12 is located on the outer mitochondrial membrane with unclear function (Venco et al. 2015). Pathogenic variants in C19orf12 include missense, nonsense, small deletion and insertion, and splice variants (Hogarth et al. 2013; Tschentscher  et al. 2015; Human Gene Mutation Database). No large deletions or duplications have been reported to be causative for MPAN.

Clinical Sensitivity - Sequencing with CNV PGxome

It has been estimated that pathogenic variants in C19orf12 account for 6-10% of neurodegeneration with brain iron accumulation (NBIA) (Arber et al. 2016).

Testing Strategy

This test provides full coverage of all coding exons of the C19orf12 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 suspected for any type of neurodegeneration with brain iron accumulation (NBIA). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in C19orf12.

Gene

Official Gene Symbol OMIM ID
C19orf12 614297
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Neurodegeneration With Brain Iron Accumulation 4 AR 614298

Citations

  • Arber .C.E et al. 2016. Neuropathology and Applied Neurobiology. 42: 220-41. PubMed ID: 25870938
  • Hogarth et al. 2013. PubMed ID: 23269600
  • Human Gene Mutation Database (Bio-base).
  • Tschentscher et al. 2015. PubMed ID: 25592411
  • Venco P. et al. 2015. Frontiers in Genetics. 6: 185. PubMed ID: 26136767

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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