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

Podocin

Podocin is a component of the podocyte slit diaphragm. Mutations are responsible for an autosomal recessive disorder, the congenital steroid resistant nephrotic syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 15 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nephrotic syndrome type 02
NPHS2

References:

1.

Orphanet article

Orphanet ID 123893 external link
2.

NCBI article

NCBI 7827 external link
3.

OMIM.ORG article

Omim 604766 external link
4.

Wikipedia article

Wikipedia EN (Podocin) external link
Update: Aug. 14, 2020
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