Gene

TBC1D7 - autosomal recessive macrocephaly/megalencephaly syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

TBC1D7 - autosomal recessive macrocephaly/megalencephaly syndrome



€ 377

TBC1D7 - autosomal recessive macrocephaly/megalencephaly syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > macrocephaly / megalencephaly syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 612655
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377