Background:
Microcephaly is defined by a patient’s head circumference dropping below two standard deviations relative to normal children of the same age. Individuals with microcephaly may also have slow brain development and at times display intellectual disabilities, seizures/epilepsy or other dysmorphic features. This sequencing test assess genes that associates with syndromes where microcephaly is a clinical feature, these include Rett syndrome, Angelman syndrome, autosomal recessive primary microcephaly. While conditions can follow a recessive form but may also be dominant or X-linked.
Reasons for Referral:
- Head circumference measures two standard deviations below average
- 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.
Microcephaly Panel (28 genes):
ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, IER3IP1, MCPH1, MECP2, MYCN, NIPBL, PCNT, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, SLC25A19, SLC9A6, STIL, TCF4, TUBB3, UBE3A, WDR62, ZEB2
Methodology:
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