Anemia

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
• 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

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