Cortical Brain Malformations Panel

New York
Approved

Genes

ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASPM, ATP6V0A2, B3GALNT2, CCND2, CIT, CUL4B, DCHS1, DCX, DYNC1H1, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, ISPD, KATNB1, KIF1BP, KIF2A, KIF5C, LAMB1, LAMC3, LARGE1, NDE1, NEDD4L, OCLN, PAFAH1B1, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SRD5A3, SRPX2, TBC1D20, TMEM5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, WDR62

Conditions

  • Cortical Brain Malformations
  • Alpha-Dystroglycanopathies
  • Lissencephaly
  • Periventricular Nodular Heterotopia
  • Polymicrogyria
  • Walker–Warburg Syndrome

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of neuronal migration and cortical organization disorders
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

698

CPT Codes*

81404x2, 81405x2, 81406x2, 81407x1

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.

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