Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ZFP57 gene encodes a transcription factor. Mutations cause autosomal recessive transient neonatal diabetes mellitus type 1. Also a connection with hypomethylation syndrome is hypothesized.
| 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 | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Hypomethylation syndrome
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DNMT1
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DNMT3A
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DNMT3B
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KHDC3L
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MECP2
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NLRP2
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NLRP7
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Recurrent hydatidiform mole 1
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NLRP7
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Recurrent hydatidiform mole 2
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KHDC3L
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ZFP57
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