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:
- panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
- WES arrhythmia and cardiac conduction disorders ¹ (100.0% *)
- WES comprehensive preconception carrier test ¹
- WES dilated cardiomyopathy ¹ (100.0% *)
- WES fetal akinesia (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES muscle disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES renal disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
