ALDOB Gene Sequencing (Hereditary Fructose Intolerance)
Gene Tested
ALDOB
Disease
Hereditary Fructose Intolerance
Description
Hereditary fructose intolerance is characterized by hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia, nausea, vomiting, abdominal pain, growth restriction, and failure to thrive when fructose or sucrose are ingested. If untreated, an infant exposed to dietary fructose and sucrose may become lethargic and develop seizures over time.
Indications
• Characteristic metabolic disturbance suggestive of hereditary fructose intolerance• Nausea, vomiting, and abdominal distress following dietary exposure to fructose, sucrose, or sorbitol
Testing Methodology
PCR-based sequencing of entire coding region, intron/exon boundaries, as well as known pathogenic variants (HGMD 2017.3) in the promoter and deep intronic regions of the specified gene(s).
Sensitivity and Limitations
The analytical sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Variants in regulatory regions and non-reported variants in untranslated regions may not be detected by this test. Large deletions/ duplications, large insertions and other complex genetic events will not be identified using sequencing methodology.
Turn-Around Time
7 days
CPT Codes
• ALDOB full gene sequence analysis: 81479
• ALDOB family specific variant analysis: 81403
How to Order
Testing for this gene is also available as part the Metaboseq panel by next-generation sequencing. Deletion/duplication analysis and targeted variant analysis is also available for this gene. Download Inborn Errors of Metabolism requisition.
References
Ali M., et al. (1998) Hereditary fructose intolerance. J Med Genet. 1998 May;35(5):353-65.
Coffee EM., et al. (2010) Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. J Inherit Metab Dis. 2010 Dec;33(6):715-25.
Cross NC., et al. (1990) Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet. 1990 Feb 10;335(8685):306-9.
Davit-Spraul A., et al. (2008) Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. Mol Genet Metab. 2008 Aug;94(4):443-7.
Esposito G., et al. (2010) Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. Hum Mutat. 2010 Dec;31(12):1294-303.
Oppelt SA., et al. (2015) Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans. Mol Genet Metab. 2015 Mar;114(3):445-50.
Santer R., et al. (2005) The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat. 2005 Jun;25(6):594.
Sebastio G., et al. (1991) Aldolase B mutations in Italian families affected by hereditary fructose intolerance. J Med Genet. 1991 Apr;28(4):241-3.
Tolan DR., et al. (1995) Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. Hum Mutat. 1995;6(3):210-8.
