Forms and Documents
- Molecular confirmation of a clinical diagnosis
- Establish the type of microcephaly and cause in order to provide information regarding prognosis, management and recurrence risk.
- Testing of at-risk relatives for specific known pathogenic variant(s) previously identified in an affected family member
- Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
- Next-Gen Sequencing
- Deletion/Duplication Analysis