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




€ 369

Gene

DHFR - megaloblastic anemia due to dihydrofolate reductase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

DHFR - megaloblastic anemia due to dihydrofolate reductase deficiency



€ 360

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




€ 360
Gene

SLC19A2 - thiamine-responsive megaloblastic anemia syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

SLC19A2 - thiamine-responsive megaloblastic anemia syndrome



€ 369