Nail Patella syndrome

LMX1B - nail-patella syndrome

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Nail Patella syndrome
• Conditions > Skeletal > Nail Patella syndrome

This product is also part of the following panels:

• Mendelian inherited disorders panel
• Renal disorders panel
• Short stature/skeletal dysplasia panel
• Skin disorders panel¹
• Vision disorders panel

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

OMIM: 602575
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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