- Microcephaly is a condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing, but usually without showing any major abnormalities in the structure of the brain. Genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development are often implicated (1). Microcephaly may be observed as an isolated finding, or as part of syndrome. Other possible causes of microcephaly include exposure to hazardous chemicals or substances, rubella or cytomegalovirus infections, and prescription or illegal drug and alcohol consumption (2). Although microcephaly is a lifelong condition that cannot be cured, there are advances in care that have facilitated new possible ways of managing symptoms and optimizing the patient’s quality of life (2).
- Genes (69): AKT3, AP4M1, AP4S1, ARFGEF2, ASPM, ASXL3, ATR, ATRX, BUB1B, CASK, CDC6, CDK5RAP2, CDKL5, CDT1, CENPJ, CEP135, CEP152, CEP290, CEP63, CTNNB1, DNM1L, DYRK1A, EFTUD2, FOXG1, IER3IP1, KIF11, LIG4, MCPH1, MECP2, MED17, MFSD2A, MRE11A, MSMO1, NBN, NDE1, NHEJ1, NR2E1, ORC1, ORC4, ORC6, PAFAH1B1, PCNT, PNKP, POMT1, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, SLC25A19, SLC2A1, SLC9A6, STAMBP, STIL, TCF4, TRAPPC9, TSEN2, TSEN34, TSEN54, TUBB2B, TUBGCP4, TUBGCP6, UBE3A, VRK1, WDR62, WWOX, ZEB2, and ZNF335
Test Code: 5065
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Microcephaly Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81302×1, 81403×1, 81404×1, 81405×3, 81406×6, 81407×2, 81408×1, 81479×54
Pricing: Please contact us at (949) 916-8886 or email@example.com
- Methodology: Next-Generation Sequencing (NGS)
Cerebellar Hypoplasia Panel