Microcephaly Panel

New York
Approved


Genes

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

Conditions

  • Microcephaly
  • Primary AR microcephaly
  • Rubinstein-Taybi syndrome (RSTS)
  • Warburg Micro Syndrome

Clinical Utility

  • 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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

689

CPT Codes*

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

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.