Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Phosphatregulierende Endopeptidase

Das Gen kodiert eine phosphatregulierende Endopeptidase und Funktionsstörung führen zu schweren Knochenveränderungen.

Genetests:

Clinic Method Familienuntersuchung
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Hochdurchsatz-Sequenzierung
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex ligationsabhängige Amplifikation
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

X-chromosomal dominante hypophosphatämische Rachitis
PHEX
Update:
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