| Sequencing of the entire coding region of gene (s) | Postnatal Diagnosis Routine | Bristol RGC | 56 | £259 |
| Sequencing of the entire coding region of gene (s) | Postnatal Diagnosis Urgent | Bristol RGC | 14 | £389 |
| Testing for known mutations in family members | Postnatal Diagnosis Routine | Bristol RGC | 28 | £203 |
| Testing for known mutations in family members | Postnatal Diagnosis Urgent | Bristol RGC | 14 | £276 |
| Testing for known mutations in family members | Prenatal Diagnosis | Bristol RGC | 3 | £305 |
| Targeted copy number analysis | Postnatal Diagnosis Routine | Bristol RGC | 28 | £183 |
| Targeted copy number analysis | Postnatal Diagnosis Urgent | Bristol RGC | 14 | £414 |
| Targeted copy number analysis | Prenatal Diagnosis | Bristol RGC | 3 | £276 |
