Belgian Genetic Tests database
Dyskeratosis Congenita (18 genes) - KUL
| Full name: |
Dyskeratosis Congenita (18 genes) - KUL
|
| Version number: |
v7_012024
|
| Laboratory: | |
| Created: |
28 Jun 2019 - 10:42
|
| Changed: |
16 Apr 2024 - 14:29
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ACD | 95.00 | 0 | NM_001082486.1/ interpretable range CS1>95% |
| CTC1 | 95.00 | 0 | NM_025099.5/ interpretable range CS1>95% |
| DKC1 | 95.00 | 0 | NM_001363.4/ interpretable range CS1>95% |
| GRHL2 | 95.00 | 0 | NM_024915.3/ interpretable range CS1>95% |
| LIG4 | 95.00 | 0 | NM_002312.3/ interpretable range CS1>95% |
| NAF1 | 95.00 | 0 | NM_138386.3/ interpretable range CS1>95% |
| NHP2 | 95.00 | 0 | NM_017838.3/ interpretable range CS1>95% |
| NOP10 | 95.00 | 0 | NM_018648.3/ interpretable range CS1>95% |
| PARN | 95.00 | 0 | NM_002582.3/ interpretable range CS1>95% |
| POT1 | 95.00 | 0 | NM_015450.2/ interpretable range CS1>95% |
| RTEL1 | 95.00 | 0 | NM_032957.4/ interpretable range CS1>95% |
| STN1 | 95.00 | 0 | NM_024928.4/ interpretable range CS1>95% |
| TERC | 95.00 | 0 | NR_001566.1/ interpretable range CS1>95% |
| TERT | 95.00 | 0 | NM_198253.2/ interpretable range CS1>90% |
| TINF2 | 95.00 | 0 | NM_001099274.1/ interpretable range CS1>95% |
| USB1 | 95.00 | 0 | NM_024598.3/ interpretable range CS1>95% |
| WRAP53 | 95.00 | 0 | NM_018081.2/ interpretable range CS1>95% |
| ZCCHC8 | 95.00 | 0 | NM_001099274.3/ interpretable range CS1>95% |