Intellectual disability, syndromal

HDAC4 - brachydactyly-intellectual disability syndrome

This test is available for the following conditions:

• Conditions > Intellectual Disability > Intellectual disability, syndromal
• Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, syndromal

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

Method

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

OMIM: 605314
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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KCNK9 - Birk-Barel syndrome

This test is available for the following conditions:

• Conditions > Intellectual Disability > Intellectual disability, syndromal
• Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, syndromal

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

Method

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

OMIM: 605874
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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