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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 6911 | HADH | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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.
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).
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.
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.
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.
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 |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase | AR | 231530 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 | AR | 609975 |
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.
- 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
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ORDER OPTIONS
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