Comprehensive Brain Malformations Panel

New York
Approved


Genes

ACTB, ACTG1, ADGRG1, AHI1, AKT3, AMPD2, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B9D1, B9D2, C5orf42, CASK, CC2D2A, CCND2, CEP104, CEP120, CEP290, CEP41, CHMP1A, CIT, CSPP1, CUL4B, DCHS1, DCX, DYNC1H1, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KATNB1, KIAA0586, KIF1BP, KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE1, MKS1, NDE1, NEDD4L, NPHP1, NPHP3, OCLN, OFD1, OPHN1, PAFAH1B1, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN15, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62

Conditions

  • COACH Syndrome
  • Cortical Brain Malformations
  • Alpha-Dystroglycanopathies
  • Joubert Syndrome
  • Lissencephaly
  • Meckel-Gruber Syndrome
  • Oral-Facial Digital Type 6
  • Periventricular Nodular Heterotopia
  • Polymicrogyria
  • Pontocerebellar Hypoplasia (PCH)
  • Walker–Warburg Syndrome

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of brain malformations
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

691

CPT Codes*

81404x2, 81405x2, 81406x2, 81407x1, 81408x1

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.