| Sequencing of the entire coding region of gene (s) | Postnatal Diagnosis Routine | Sheffield RGC | 56 | £310 |
| Sequencing of the entire coding region of gene (s) | Postnatal Diagnosis Urgent | Sheffield RGC | 28 | £460 |
| Sequencing of the entire coding region of gene (s) PLUS copy number analysis | Postnatal Diagnosis Routine | Sheffield RGC | 56 | £510 |
| Testing for known mutations in family members | Prenatal Diagnosis | Sheffield RGC | 3 | £460 |
| Testing for known mutations in family members Note: diagnostic sequencing | Postnatal Diagnosis Routine | Sheffield RGC | 14 | £155 |
| Testing for known mutations in family members Note: predictive sequencing | Postnatal Diagnosis Routine | Sheffield RGC | 14 | £155 |
| Targeted copy number analysis Note: diagnostic dosage | Postnatal Diagnosis Routine | Sheffield RGC | 14 | £200 |
| Targeted copy number analysis Note: predictive dosage | Postnatal Diagnosis Routine | Sheffield RGC | 14 | £250 |
