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 ¹
- WES intellectual disability (% *)
- WES iron disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
* % 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
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 ¹
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (% *)
- WES iron disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES muscle disorders (% *)
* % 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