Gene

PUS1 - Myopathy- lactic acidosis- and sideroblastic anemia

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PUS1 - Myopathy- lactic acidosis- and sideroblastic anemia



€ 725

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
  • panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

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




€ 725
Gene

YARS2 - myopathy, lactic acidosis and sideroblastic anemia

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

YARS2 - myopathy, lactic acidosis and sideroblastic anemia



€ 725

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
  • panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

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




€ 725