Belgian Genetic Tests database
Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL
| Full name: |
Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL
|
| Description: |
https://laboboeken.nexuzhealth.com/pboek/internet/GHB/16656
|
| Version number: |
V1
|
| Laboratory: | |
| Created: |
28 Jul 2023 - 15:32
|
| Changed: |
23 Aug 2023 - 08:46
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| AIRE | 95.00 | 0 | NM_000383.4/ interpretable range CS1>95% |
| ALPL | 95.00 | 0 | NM_000478.6/ interpretable range CS1>95% |
| AP2S1 | 95.00 | 0 | NM_004069.6/ interpretable range CS1>95% |
| CASR | 95.00 | 0 | NM_000388.4/ interpretable range CS1>95% |
| CDC73 | 95.00 | 0 | NM_024529.5/ interpretable range CS1>95% |
| CDKN1B | 95.00 | 0 | NM_004064.5/ interpretable range CS1>95% |
| CLCN5 | 95.00 | 0 | NM_000084.5/ interpretable range CS1>95% |
| CYP27B1 | 95.00 | 0 | NM_000785.4/ interpretable range CS1>95% |
| CYP2R1 | 95.00 | 0 | NM_024514.5/ interpretable range CS1>95% |
| DMP1 | 95.00 | 0 | NM_004407.4/ interpretable range CS1>95% |
| ENPP1 | 95.00 | 0 | NM_006208.3/ interpretable range CS1>95% |
| FAM20C | 95.00 | 0 | NM_020223.4/ interpretable range CS1>95% |
| FGF23 | 95.00 | 0 | NM_020638.3/ interpretable range CS1>95% |
| GATA3 | 95.00 | 0 | NM_001002295.2/ interpretable range CS1>95% |
| GCM2 | 95.00 | 0 | NM_004752.4/ interpretable range CS1>95% |
| GNA11 | 95.00 | 0 | NM_002067.5/ interpretable range CS1>95% |
| GNAS | 95.00 | 0 | NM_000516.7/ interpretable range CS1>95% |
| HADHA | 95.00 | 0 | NM_000182.5/ interpretable range CS1>95% |
| HADHB | 95.00 | 0 | NM_000183.3/ interpretable range CS1>95% |
| MEN1 | 95.00 | 0 | NM_130799.3/ interpretable range CS1>95% |
| NHERF1 | 95.00 | 0 | NM_004252.5/ interpretable range CS1>95% |
| OCRL | 95.00 | 0 | NM_000276.4/ interpretable range CS1>95% |
| PHEX | 95.00 | 0 | NM_000444.6/ interpretable range CS1>95% |
| PTH | 95.00 | 0 | NM_000315.4/ interpretable range CS1>95% |
| PTH1R | 95.00 | 0 | NM_000316.3/ interpretable range CS1>95% |
| RET | 95.00 | 0 | NM_020975.6/ interpretable range CS1>95% |
| SLC34A1 | 95.00 | 0 | NM_003052.5/ interpretable range CS1>95% |
| SLC34A3 | 95.00 | 0 | NM_080877.3/ interpretable range CS1>95% |
| STX16 | 95.00 | 0 | NM_001001433.3/ interpretable range CS1>95% |
| TBCE | 95.00 | 0 | NM_003193.5/ interpretable range CS1>95% |
| VDR | 95.00 | 0 | NM_001017535.2/ interpretable range CS1>95% |