3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
6911 HADH 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
6911HADH81479 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

3-hydroxyacyl-CoA dehydrogenase deficiency is a disorder of mitochondrial fatty acid beta-oxidation characterized by hypoglycemic seizures and hyperinsulinism (HI) within the first 3 years of life (Martins et al. 2011; Clayton et al. 2001). Clinical features include hyperinsulinemic hypoglycemia, poor appetite, vomiting, diarrhea, lethargy, hypotonia, and liver problems. Most cases are responsive to treatment with diazoxide.

Genetics

Recessive inactivating HADH pathogenic variants cause 3-hydroxyacyl-CoA dehydrogenase deficiency with hyperinsulinemic hypoglycemia (Martins et al. 2011; Clayton et al. 2001). The HADH gene (9 coding exons) encodes 3-hydroxyacyl-CoA dehydrogenase which catalyzes the reversible dehydrogenation of 3-hydroxyacyl-CoAs to their corresponding 3-ketoacyl-CoAs in mitochondrial fatty acid beta-oxidation. Genetic defects of HADH found to date include missense, nonsense, splicing, small indels and one large deletion (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the HADH gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Clinical Sensitivity - Sequencing with CNV PG-Select

Homozygous HADH pathogenic variants were identified in 11 (10%) of 115 unrelated patients with diazoxide-responsive hyperinsulinemic hypoglycemia who were negative for pathogenic variants in the hyperinsulinemia-associated genes ABCC8, KCNJ11, GCK, and HNF4A (Flanagan et al. 2011).

To date, only one large deletion was found in HADH (Flanagan et al. 2011). Large deletions and duplications are expected to be rare.

Indications for Test

Candidates for this test are patients with 3-hydroxyacyl-CoA dehydrogenase deficiency. Testing is also indicated for family members of patients who have known HADH mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HADH.

Gene

Official Gene Symbol OMIM ID
HADH 601609
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
Congenital Hyperinsulinism Panel

Citations

  • Clayton P.T. et al. 2001. The Journal of Clinical Investigation. 108: 457-65.  PubMed ID: 11489939
  • Flanagan S.E. et al. 2011. The Journal of Clinical Endocrinology and Metabolism. 96: E498-502.  PubMed ID: 21252247
  • Human Gene Mutation Database (Bio-base).
  • Martins E. et al. 2011. Journal of Inherited Metabolic Disease. 34: 835-42.  PubMed ID: 21347589

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.

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

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ORDER OPTIONS

View Ordering Instructions

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.

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