Loeys-Dietz syndrome

SMAD3 - Loeys-Dietz syndrome, type 3

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Loeys-Dietz syndrome

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

Method

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

OMIM: 603109
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TGFBR2 - Loeys-Dietz syndrome, type2

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Loeys-Dietz syndrome

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

Method

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

OMIM: 190182
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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