Molecular Genetic Testing

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HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS

 

GALNT3, FGF23 AND KL GENE ANALYSIS IN HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS

 

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) is a severe metabolic disorder characterised by recurrent painful ectopic subcutaneous calcifications occurring mainly around the hip, elbow or shoulder, which often result in secondary infection and incapacitating mutilation. Patients may also have dental abnormalities, vascular calcifications, cortical hyperostosis and angioid streaks of the retina. Biochemically affected individuals have hyperphosphatemia and normal or elevated levels of 1,25-dihydroxyvitamin D. Onset is usually within the first decade of life.

 

HFTC is an autosomal recessive disorder caused by loss of function mutations in the GALNT3 gene (Topaz et al 2004 Nat Genet 36, 579-581) and the FGF23 gene (Benet-Pages et al. Hum Mol Genet. 2005 14:385-390).

 

HFTC with hyperparathyroidism and carotid artery calcifications has been reported in a patient with a homozygous mutation in the KL gene (Ichikawa et al 2007 J Clin Invest 117, 2684-269).  

 

Test
Cost
Known Mutation
£100
GALNT3 exons 1-10 analysis by sequencing
£350
FGF23 exons 1-3 analysis by sequencing
£140
KL exons 1-5 analysis by sequencing
£350

 

 

Link to Testing Pathwway

 

 

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.