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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

689
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81405x2, 81406x2, 81407x1, 81302x1, 81304x1
Yes
Yes
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