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:

  • panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)
  • WES comprehensive preconception carrier test *
  • WES intellectual disability (97.5% **)
  • WES iron disorders (97.5% **)
  • WES Mendelian inherited disorders (97.5% **)
  • WES mitochondrial disorders (97.5% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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:

  • panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)
  • WES comprehensive preconception carrier test *
  • WES iron disorders (99.6% **)
  • WES Mendelian inherited disorders (99.6% **)
  • WES mitochondrial disorders (99.6% **)
  • WES muscle disorders (99.6% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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