Achondroplasia

FGFR3 - achondroplasia ¹

This test is available for the following conditions:

• Conditions > Skeletal > Achondroplasia

This product is also part of the following panels:

• Craniofacial anomalies panel
• Hearing impairment panel (including GJB2)
• Intellectual disability panel
• Mendelian inherited disorders panel
• Short stature/skeletal dysplasia panel
• Skin disorders panel¹
• Tall stature panel

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

Method

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

OMIM: 134934
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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