Laminopathy

LMNA - Lamin A/C nucleair staining ¹

This test is available for the following conditions:

• Conditions > Cardiovascular > Laminopathy
• Conditions > Cardiovascular > Limb-Girdle, Emery Dreifuss

Turnaround time
4 months

Method

• Functional test

OMIM: 150330
Performing laboratory: Maastricht UMC+
Authorized material(s): Skin biopsy, Fibroblast

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ZMPSTE24 - Laminopathy ¹

This test is available for the following conditions:

• Conditions > Cardiovascular > Laminopathy

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Fetal akinesia panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Orofacial clefting panel with genome wide CNV analysis
• Renal disorders panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹

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

Method

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

OMIM: 606480
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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