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Elevated Levels of C5-hydroxyacylcarnitine (C5-OH) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ACAT1 81479,81479
AUH 81479,81479
BTD 81404,81479
HLCS 81406,81479
HMGCL 81479,81479
MCCC1 81406,81479
MCCC2 81406,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
4999Genes x (7)81479 81404(x1), 81406(x3), 81479(x10) $990 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

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

Elevated levels of C5-hydroxyacylcarnitine (C5-OH), detected through the newborn screening program or plasma acylcarnitine analysis, are associated with a group of amino acid disorders with enzymatic defects leading to abnormal catabolism of branched chain amino acids. 

Multiple carboxylase deficiency encompasses two disorders caused by enzymatic defect affecting biotin metabolism: holocarboxylase synthase deficiency (HCS) and biotinidase deficiency (BTD). Both disorders overlap in their clinical presentation, but may be differentiated by their age of onset. Clinical signs of BTD typically appear after 3 months of age while HCS is typically evident earlier (Wolf et al. 1985. PubMed ID: 4073853, Wolf. 2000. PubMed ID: 20301497). Overlapping clinical features include seizures, hypotonia, respiratory symptoms, developmental delay, and ataxia. Eczema, alopecia, dermatitis, and skin infections are also common findings (Wolf. 2000. PubMed ID: 20301497; Suzuki et al. 2005. PubMed ID: 16134170).

Three disorders can be linked to enzymatic defects leading to abnormal leucine catabolism: 3-methylglutaconic aciduria type I (MGA1), 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency (HMGCL), and 3-methylcrotonyl-CoA carboxylase deficiency (MCC). HMGCL and MCC are both associated with episodes of vomiting, lethargy, diarrhea, and hypotonia. In contrast to MCC, children with HMGCL can develop hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis during these episodes (Al-Sayed et al. 2006. PubMed ID: 17173698). In MGA1, the accumulation of toxic leucine metabolites results mainly in a neurologic condition with variable severity. Two main presentations have been described: children with various types of delays (mostly speech and motor) and adults with progressive neurodegenerative disorders (Wortmann et al. 2010 PubMed ID: 20855850).

β-ketothiolase deficiency is a disorder of isoleucine catabolism leading to intermittent ketoacidotic episodes associated with vomiting, lethargy, and fever with onset early in life (median age is 15 months old). In about half of affected patients, a severe attack is associated with unconsciousness/coma, which can result in subsequent intellectual disability or death. Affected individuals are typically asymptomatic between episodes, but the extent of the clinical features varies based on the patient and the severity of the attack (Nakamura et al. 2001. PubMed ID: 11161837, Fukao et al. 2001. PubMed ID: 11161836). 

MCC, BTD, and HCS are the most prevalent disorders included on this panel affecting approximately 1 in 50,000, 1 in 60,000, and 1 in 87,000 live births, respectively (Wolf et al. 2000. PubMed: 20301497, Baumgartner et al. 2001. PubMed ID: 11181649). HMGCL, MGA1, and β-ketothiolase deficiency are much rarer with less than ~250 individuals reported in the medical literature.

Molecular testing can be useful for confirmation of a genetic cause associated with elevated C5-hydroxyacylcarnitine on newborn screening or plasma acylcarnitine. Since this can be associated with multiple conditions, molecular diagnosis may help with determining appropriate treatment measures and allow for appropriate screening for potential future symptoms. 


This sequencing panel includes genes associated with inborn errors of metabolism that may result in elevated C5-hydroxyacylcarnitine on newborn screening or plasma acylcarnitine analysis. All conditions covered by this test are inherited in an autosomal recessive mode of inheritance. Pathogenic defects in the genes in this panel include missense, nonsense, splice site variants, small deletions, small insertions/duplications, small indels, and exon-level large deletions (Human Gene Mutation Database). See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

The clinical sensitivity of this specific grouping of genes is difficult to estimate as we are unaware of any reports in the literature in which these genes have been sequenced together in a patient cohort with elevated 5-hydroxyacylcarnitine as the primary indication for testing. The clinical sensitivity of sequencing the relevant gene(s) in patients with biochemical or enzymatic diagnoses of the relevant disorders is expected to be high; details are available on the individual gene test description pages.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes 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 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 C5-hydroxyacylcarnitine (C5-OH) detected through the newborn screening program or plasma acylcarnitine are good candidates for this test.


Official Gene Symbol OMIM ID
ACAT1 607809
AUH 600529
BTD 609019
HLCS 609018
HMGCL 613898
MCCC1 609010
MCCC2 609014
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test




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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