Primary AR microcephaly

Tests Available

Forms and Documents

Test Details

AMPD2, ANKLE2, AP4M1, ARFGEF2, ASPM, ASXL1, ATR, ATRX, BRAT1, CASK, CDK5RAP2, CDKL5, CENPE, CENPF, CENPJ, CEP135, CEP152, CIT, CREBBP, CTNNB1, DDX3X, DHCR7, DIAPH1, DYRK1A, EFTUD2, EP300, FOXG1, IER3IP1, KAT6A, KATNB1, KIF11, KIF1A, KMT2D, KNL1, MCPH1, MECP2, MED17, MYCN, NIPBL, PCNT, PNKP, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, RNASEH2C, RTTN, SEPSECS, SLC25A19, SLC9A6, SNAP29, STAMBP, STIL, TCF4, TRAPPC9, TSEN54, TUBA1A, TUBB3, TUBGCP4, TUBGCP6, UBE3A, VPS13B, WDR62, ZEB2, ZNF335
  • 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

Ordering

689
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x1, 81405x2, 81406x2, 81407x1, 81302x1, 81304x1
Yes
Yes
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.