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Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via the MPC1 (BRP44L) 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
8719 MPC1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8719MPC181479 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

  • Kym Bliven, PhD

Clinical Features and Genetics

Clinical Features

Mitochondrial Pyruvate Carrier Deficiency (MPYCD) is a rare disorder of mitochondrial pyruvate oxidation (Bricker et al. 2012; Brivet et al. 2003). Biochemically, this disease is characterized by increases in serum pyruvate and lactate, a normal lactate/pyruvate ratio, and normal pyruvate dehydrogenase activity. Affected individuals may manifest symptoms such as severe neonatal encephalopathy, delayed psychomotor development without regression, epilepsy, and/or peripheral neuropathy. Although there are limited data regarding patients affected with MPYCD, the phenotypic spectrum of this disorder has been reported to range from a more moderate childhood disorder to a severe, fatal neonatal form.

As MPC1 (formerly BRP44L) gene defects have only recently been linked to MPYCD and few cases have been described to date, global incidence and long-term prognosis for this disease are currently unknown.

Genetics

MPYCD is an autosomal recessive disorder caused by defects in the mitochondrial pyruvate carrier complex (Bricker et al. 2012; Herzig et al. 2012). The MPC1 gene encodes for an inner mitochondrial membrane protein that interacts with MPC2 (BRP44) to form the multimeric mitochondrial pyruvate carrier complex essential for transport of pyruvate into the mitochondria. Two pathogenic variants, both missense, have been documented for MPC1-associated MPYCD (Bricker et al. 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

At the present time, clinical sensitivity for MPC1-associated Mitochondrial Pyruvate Carrier Deficiency is difficult to estimate as fewer than ten cases have been described in the literature. Analytical sensitivity should be high as all of the few reported pathogenic variants are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the MPC1 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

MPC1 sequencing should be considered in patients with a family history of Mitochondrial Pyruvate Carrier Deficiency (MPYCD) or patients who present with symptoms consistent with MPYCD. We will also sequence the MPC1 gene to determine carrier status.

Gene

Official Gene Symbol OMIM ID
MPC1 614738
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Mitochondrial Pyruvate Carrier Deficiency AR 614741

Citations

  • Bricker, D. et al. 2012. Science. 337:96-100. PubMed ID: 22628558
  • Brivet, M. et al. 2003. Molecular Genetics and Metabolism. 78:186-92. PubMed ID: 12649063
  • Herzig, S. et al. 2012. Science. 337:93-6. PubMed ID: 22628554

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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