NL
DHFR - megaloblastic anemia due to dihydrofolate reductase deficiency
This test is available for the following conditions:
- Conditions > Hearing impairment > Megaloblastic anemia syndrome
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
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Primary immunodeficiencies panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
126060
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC19A2 - thiamine-responsive megaloblastic anemia syndrome
This test is available for the following conditions:
- Conditions > Hearing impairment > Megaloblastic anemia syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hearing impairment panel (including GJB2)
- 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
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
603941
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
