DNA icon

Elevated Levels of C0/(C16+C18) Acylcarnitine via the CPT1A 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
CPT1A 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
16041CPT1A81479 81479,81479 $990 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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 platform).

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

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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.


Genetic Counselors


  • Maxime Cadieux-Dion, PhD

Clinical Features and Genetics

Clinical Features

Newborn screening (NBS) tests are performed soon after birth with the goal of identifying individuals that may be affected by certain disorders before disease-related disability or death occurs. Appropriate medical management beginning early in life can prevent all or many symptoms in the affected individuals (Watson et al. 2006. PubMed ID: 16783161; https://www.cdc.gov/newbornscreening/). While NBS is required within all states and territories in the United States, individual state or territory public health departments determine which conditions are included on the NBS panel (https://www.babysfirsttest.org/newborn-screening/states). NBS protocols outside of the United States vary from country to country. At a minimum, all core conditions on the Recommended Uniform Screening Panel (RUSP) should be included on NBS panels within the United States. In addition, NBS testing may also include secondary conditions, which are disorders that can be detected as part of the differential diagnosis of a core condition (https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp). Following an abnormal NBS result, follow up diagnostic testing is indicated. Such testing may include biochemical methodologies (for example, urine organic acid analysis or plasma acylcarnitine analysis), enzyme assays, and/or molecular genetic testing.

This test is designed for individuals with NBS results showing elevated levels of C0/(C16+C18) acylcarnitine ratio which can indicate carnitine palmitoyltransferase 1A deficiency. CPT1A deficiency is a core condition on the RUSP.


Carnitine palmitoyltransferase 1A deficiency is an autosomal recessive rare disorder, and CPT1A is the only gene that is known to be involved. The majority of pathogenic variants are missense, though one small in-frame deletion as well as nonsense and other premature termination variants (small insertions, deletions, and splice variants) have also been reported. Two gross deletions have been reported (Human Gene Mutation Database). At least three variants have been reported at higher frequencies in specific populations. The p.G710E variant is common among North American Hutterites, the p.P479L variant is common among Alaskan Native populations and other Inuit and artic populations, and the p.K455T variant is common among Finnish patients (Prasad et al. 2001. PubMed ID: 11350183;Greenberg et al. 2009. PubMed ID: 19217814; Gillingham et al. 2011. PubMed ID: 21763168; Clemente et al. 2014. PubMed ID: 25449608; Roomets et al. 2012. PubMed ID: 21962599).

The carnitine palmitoyltransferase system is comprised of several proteins with enzyme and transporter functions. These proteins are involved in long-chain fatty acid (LCFA) metabolism, being specifically responsible for the net transport of LCFAs from the cytosol into the mitochondrial matrix. The CPT1 protein is the first component of this system. CPT1 activates LCFAs by catalyzing the transfer of an acyl group to carnitine, which is then transported into the mitochondrial matrix. Multiple isoforms of CPT1 exist. The CPT1A isoform is expressed predominantly in the liver and is the only isoform that has thus far been associated with human disease (Brown et al. 2001. PubMed ID: 11441142; Bonnefont et al. 2004. PubMed ID: 15363638).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity of this test is expected to be high for patients with confirmed carnitine palmitoyltransferase 1A deficiency as, to date, nearly all reported patients have had two pathogenic variants detectable via sequencing. Based on combined results from several studies, 55 pathogenic alleles were identified in 29 affected patients for an overall sensitivity of ~95% (Brown et al. 2001. PubMed ID: 11441142; Gobin et al. 2002. PubMed ID: 12189492; Bennett et al. 2004. PubMed ID: 15110323; Greenberg et al. 2009. PubMed ID: 19217814; Fontaine et al. 2012. PubMed ID: 23430932; Roomets et al. 2012. PubMed ID: 21962599).

Only two gross deletions have been reported in the CPT1A gene (Gobin et al. 2002. PubMed ID: 12189492; Zhang et. al. 2021. PubMed ID: 34869124). Therefore, the sensitivity of duplication/deletion testing for this rare disorder, although not precisely known, is expected to be low.

Testing Strategy

This test provides full coverage of all coding exons of the CPT1A 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

Patients with elevated levels of C0/(C16+C18) acylcarnitine ratio detected during newborn screen as well as those with clinical and biochemical test results consistent with CPT1A deficiency are good candidates for this test. Family members of patients who have known CPT1A pathogenic variants are also good candidates. We will also sequence the CPT1A gene to determine carrier status.


Official Gene Symbol OMIM ID
CPT1A 600528
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Carnitine Palmitoyltransferase I Deficiency AR 255120

Related Test

Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene


  • Bennett et al. 2004. PubMed ID: 15110323
  • Bonnefont et al. 2004. PubMed ID: 15363638
  • Brown et al. 2001. PubMed ID: 11441142
  • Clemente et al. 2014. PubMed ID: 25449608
  • Fontaine et al. 2012. PubMed ID: 23430932
  • Gillingham et al. 2011. PubMed ID: 21763168
  • Gobin et al. 2002. PubMed ID: 12189492
  • Greenberg et al. 2009. PubMed ID: 19217814
  • https://www.babysfirsttest.org/newborn-screening/states
  • https://www.cdc.gov/newbornscreening/
  • https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp
  • Human Gene Mutation Database (Bio-base)
  • Prasad et al. 2001. PubMed ID: 11350183
  • Roomets et al. 2012. PubMed ID: 21962599
  • Watson et al. 2006. PubMed ID: 16783161
  • Zhang et. al. 2021. PubMed ID: 34869124


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard