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Elevated Levels of C6, C8 and C10 Acylcarnitine via the ACADM 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
ACADM 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
16045ACADM81479 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 C6, C8, C10 acylcarnitine which can indicate medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD). MCAD deficiency is a core condition on the RUSP.


Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disease. Medium chain acyl-CoA dehydrogenase, encoded by the ACADM gene, catalyzes the first step in the breakdown of fatty acids with 4-12 carbon atoms. For patients with Northern European ancestry, one missense variant in exon 11 (c.985A>G, p.Lys329Glu; historically known as p.Lys304Glu) is predominant, comprising up to about 76% of alleles in individuals with MCAD deficiency. This variant tends to cause particularly severe disease. Many other causative missense, frameshift, splicing, and nonsense variants as well as gross deletions have been described throughout the length of the gene; most are private variants. Individuals who are compound heterozygous for the p.Lys329Glu (p.Lys304Glu) variant, or homozygous for other variants in the ACADM gene, tend to have less severe disease. It appears that diagnosis by tandem mass spectrometry is more sensitive than diagnosis by other clinical features and may identify subclinical cases (Andresen et al. 2001. PubMed ID: 11349232; Maier et al. 2005. PubMed ID: 15832312; Merritt and Change. 2019. PubMed ID: 20301597; Waddell et al. 2006. PubMed ID: 16291504).

Clinical Sensitivity - Sequencing with CNV PGxome

Sensitivity of this test appears to be high. Approximately 50% of patients are homozygous for the p.Lys329Glu (p.Lys304Glu) variant, and 40% of affected individuals are heterozygous for this variant (Merritt and Change. 2019. PubMed ID: 20301597).

Testing Strategy

This test provides full coverage of all coding exons of the ACADM 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 C6, C8 and C10 acylcarnitine detected during newborn screen as well as those with clinical and biochemical test results consistent with MCAD deficiency are good candidates for this test. Family members of patients who have known ACADM pathogenic variants are also good candidates. We will also sequence the ACADM gene to determine carrier status.


Official Gene Symbol OMIM ID
ACADM 607008
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene


  • Andresen et al. 2001. PubMed ID: 11349232
  • https://www.babysfirsttest.org/newborn-screening/states
  • https://www.cdc.gov/newbornscreening/
  • https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp
  • Maier et al. 2005. PubMed ID: 15832312
  • Merritt and Change. 2019. PubMed ID: 20301597
  • Waddell et al. 2006. PubMed ID: 16291504
  • Watson et al. 2006. PubMed ID: 16783161


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

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2) Select Additional Test Options

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