NL
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
LMNA - Laminopathy ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Laminopathy
This product is also part of the following panels:
- Arrhythmia and cardiac conduction disorders panel¹
- Comprehensive preconception carrier test panel¹
- Dilated cardiomyopathy panel¹
- Fetal akinesia panel
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
- Polyneuropathies panel¹
- 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:
150330
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
