Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ASS gene encodes argininosuccinate synthetase, a liver enzyme involved in nitrogen disposal. Loss-of-function mutations affecting this gene cause autosomal recessive citrullinemia type 1 (classic).
| 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 | Target mutation analysis |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Kobayashi K et al. (1990) Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. 
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| 2. |
Orphanet article Orphanet ID 121468
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| 3. |
NCBI article NCBI 445
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| 4. |
OMIM.ORG article Omim 603470
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| 5. |
Wikipedia article Wikipedia EN (Argininosuccinate_synthase)
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