NL
PUS1 - Myopathy- lactic acidosis- and sideroblastic anemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
- Conditions > Mitochondrial disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
608109
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
YARS2 - myopathy, lactic acidosis and sideroblastic anemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
- Conditions > Mitochondrial disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
610957
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
