Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
In collaboration with the cell adhesion molecule, the protein encoded by the CD2AP gene initiates cytoskeletal polarization. Haploinsufficiency of this gene is associated with familial glomerulosclerosis 3.
The gene CD2AP resides on chromosome 6 (Chr.6). Its size is 150.7kb. It contains 18 exons--all coding.
| 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 | 30 days | |
| Specimen type | genomic DNA |
| 1. |
Kim JM et al. (2003) CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. 
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| 2. |
NCBI article NCBI 23607
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| 3. |
OMIM.ORG article Omim 604241
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| 4. |
Orphanet article Orphanet ID 236656
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| 5. |
Wikipedia article Wikipedia EN (CD2AP)
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