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DES - Limb-Girdle, Emery Dreifuss ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Limb-Girdle, Emery Dreifuss
This product is also part of the following panels:
- Aritmogene cardiomyopathy panel¹
- Arrhythmia and cardiac conduction disorders panel¹
- Comprehensive preconception carrier test panel¹
- Dilated cardiomyopathy panel¹
- Heart disorders panel¹
- Hypertrophic cardiomyopathy panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
125660
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LDB3 - Limb-Girdle, Emery Dreifuss ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Limb-Girdle, Emery Dreifuss
This product is also part of the following panels:
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
605906
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 - Limb-Girdle, Emery Dreifuss ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Limb-Girdle, Emery Dreifuss
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
- Neuropathies 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
MYOZ2 - Limb-Girdle, Emery Dreifuss ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Limb-Girdle, Emery Dreifuss
This product is also part of the following panels:
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
605602
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PLN - Limb-Girdle, Emery Dreifuss ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Limb-Girdle, Emery Dreifuss
This product is also part of the following panels:
- Aritmogene cardiomyopathy panel¹
- Arrhythmia and cardiac conduction disorders panel¹
- Dilated cardiomyopathy panel¹
- Heart disorders panel¹
- Hypertrophic cardiomyopathy panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
172405
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TCAP - Limb-Girdle, Emery Dreifuss ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Limb-Girdle, Emery Dreifuss
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
604488
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
