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  1. Test Catalog
  2. HADHB

HADHB

Alias

ECHB; MSTP029; MTPB; TP-BETA

Associated disorders

The HADHB gene is associated with autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 87460).

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HADHB

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Invitae tests that include this gene:

Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel 2 genes

Invitae Metabolic Disorders Newborn Screening Confirmation Panel 90 genes

Invitae Fatty Acid Oxidation Defects Panel 18 genes

An estimated 32% of trifunctional protein deficiency case are due to pathogenic variants in the HADHB gene (PMID:21549624).

HADHB encodes the beta subunit of the mitochondrial trifunctional protein enzyme complex which is comprised of four alpha and four beta subunits. The complex is involved in beta-oxidation of long chain fatty acids. The HADHB protein catalyzes the final step of beta-oxidation, where 3-ketoacyl-CoA is cleaved by the thiol group of another molecule of Coenzyme A (PMID: 15902556).

  1. Olpin, SE, et al. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J. Inherit. Metab. Dis. 2005; 28(4):533-44. PMID: 15902556
  2. Boutron, A, et al. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol. Genet. Metab. 2011; 103(4):341-8. PMID: 21549624

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
HADHB NM_000183.2
Clinical resources
Metabolic disorders and newborn screening analytes table Metabolic disorders and newborn screening gene list Invitae brochure
Patient resources
Patient guide: Genetic testing simplified
Test information
Specimen requirements page Forms page

References

  1. Olpin, SE, et al. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J. Inherit. Metab. Dis. 2005; 28(4):533-44. PMID: 15902556
  2. Boutron, A, et al. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol. Genet. Metab. 2011; 103(4):341-8. PMID: 21549624

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