Holt-Oram syndrome

TBX5 - Holt-Oram syndrome ¹

This test is available for the following conditions:

• Conditions > Cardiovascular > Holt-Oram syndrome

This product is also part of the following panels:

• Congenital heartdisease panel¹
• Heart disorders panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Short stature/skeletal dysplasia panel with genome wide CNV analysis

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

Method

• Deletion/duplication analysis (MLPA)

OMIM: 601620
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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