Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations of the FH gene cause fumarase deficiency and hereditary leiomyomatosis and hereditary renal cancer often concurs.
Fumarat hydratase is a key enzyme in Krebs cycle, which is respinsible for metabolism of tricarboxylic acids. The conversion of fumarate to malate is catalyzed.<br>Heterozygous mutations cause skin leiomyomatosis and these patients are of hight risk for renal-cell cancers.<br>Homozygous mutations are associated with early cerebral demage and growth failure.
| 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 | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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