Molecular Genetics
Macrocephaly Panel
Background:
Macrocephaly is a clinical diagnosis where the measured head circumference is larger than 2 standard deviations above the average for individuals at a common age. Abnormal skull formations are also associated to abnormalities in brain development and intellectual disabilities. These conditions can be inherited in an autosomal dominant, recessive or X-linked manner.
Reasons for Referral:
- Head circumference measures greater than two standard deviations from normal
- Suspected genetic etiology of a brain malformation
- Carrier testing
- Positive family history
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.
Macrocephaly Panel (11 genes):
CUL4B, EZH2, GLI3, MED12, NFIX, NSD1, PHF6, PIK3CA, PTCH1, PTEN, UPF3B
Methodology:
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Test Performed (Days):
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Additional Info: