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Nephrologic diseases

We perform molecular genetic investigation of the nephrologic diseases listed below.
Please use our request form when sending samples.

If you require further information please do not hesitate to contact us.

Disease (gene) Method Material Processing
time
Alport Syndrome, autosomal recessive (COL4A3, COL4A4)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Alport Syndrome, X-linked (COL4A5)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Bartter Syndrome type 3 (CLCNKB)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Cystinuria
(SLC3A1, SLC7A9)*
Sequencing (complete) EDTA blood / DNA 3-4 weeks
Epstein Syndrome (MYH9)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Gitelman Syndrome (SLC12A3)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Hemolytic Uremic Syndrome (CFH)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Kallmann Syndrome 1 (KAL1)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Kallmann Syndrome 2 (FGFR1)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Lowe Oculocerebrorenal Syndrome (OCRL)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Meckel Syndrome 1 (MKS1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Nephrosis 1, Congenital, Finnish (NPHS1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Nephrotic Syndrome, Steroid Resistent (NPHS2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Polycystic Kidney Disease, autosomal dominant
(PKD1, PKD2)*
Sequencing (complete) EDTA blood / DNA 8-10 weeks

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