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
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Gene

TBC1D7 - autosomal recessive macrocephaly/megalencephaly syndrome

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

TBC1D7 - autosomal recessive macrocephaly/megalencephaly syndrome


€ 377
Add