Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Phosphate-regulating endopeptidase homolog, x-linked

The gene encodes a phosphate-regulating endopeptidase and its dysfunction results in sevier bone disease.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

X-linked dominant hypophosphatemic rickets
PHEX

References:

1.

Brame LA et al. (2004) Renal phosphate wasting disorders: clinical features and pathogenesis.

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2.

Baroncelli GI et al. (2004) Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.

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Update: Sept. 26, 2018