TBX1 - velocardiofacial syndrome/DiGeorge syndrome
This test is available for the following conditions:
- Conditions > Cardiovascular > Velocardiofacial syndrome/DiGeorge syndrome
This product is also part of the following panels:
- Congenital heartdisease panel¹
- Craniofacial anomalies panel
- Heart disorders panel¹
- Hemostatic/thrombotic disorders panel
- Intellectual disability panel
- Mendelian inherited disorders panel
- Orofacial clefting panel
- Primary immunodeficiencies panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602054
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane