Red blood cell enzyme deficiencies NGS panel
The Sanquin Red Blood Cell Enzym Deficiency Panel includes 22 genes and regions of interest (test code X013-X016). Screening for Glucose-6-phosphate dehydrogenase (G6PD) or Pyruvate Kinase deficiency is usually done by measuring the enzyme activity (test code B005). When a patient has received blood transfusions the DNA method can be applied. In cases of G6PD deficiency the panel can be used to relate a mutation to disease severity (WHO class I, II or III). Another, flowcytometry test (test code B005) is suitable to determine the percentage of G6PD deficient cells in female heterozygote patients. As with G6PD deficiency also for Pyruvate Kinase deficiency mutation analysis will help to differentiate between heterozygosity and homozygosity and the mutation type may predict disease outcome. For diagnosing other causes of acute hemolytic anemia we included many genes involved in protection of the red blood cells against oxidative damage. For causes of chronic hemolytic anemia we included the genes involved in the energy metabolism (glycolysis). For completeness we included also the genes related to congenital sideroblastic anemia, cyanosis and bilirubin clearance. Thus, for patients suspected for rare causes of hemolytic anemia we suggest first to apply for simultaneous screening for mutation in candidate genes before searching for enzyme deficiencies one by one by very exotic enzyme tests.
AmpliSeq panel RBC Enzyme, genes and the main phenotypic abnormalities due to defects in each gene |
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Genes |
Name |
OMIM phenotypic abnormalities |
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ABCB7 |
ATP-binding cassette, sub-family B (MDR/TAP), mbr 7 |
Sideroblastic anemia and Spinocerebellar ataxia (OMIM:301310) |
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AK1 |
Adenylate kinase 1 |
Hemolytic anemia due to adenylate kinase deficiency (OMIM:612631) |
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ALAS2 |
Aminolevulinate, delta-, synthase 2 |
Sideroblastic anemia, x-linked (OMIM:300751), Erythropoietic protoporphyria , x-linked (OMIM:300752) |
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ALDOA |
Aldolase A |
Glycogen storage disease XII (OMIM:611881) |
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CYB5R3 |
Cytochrome b5 reductase 3 (DIA1) |
Methemoglobinemia due to deficiency of methemoglobin reductase (OMIM:250800) |
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ENO1 |
Enolase 1, (alpha) |
No diseases associated with this gene. |
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G6PD |
Glucose-6-phosphate dehydrogenase |
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GAPDH |
Glyceraldehyde-3-phosphate dehydrogenase |
No diseases associated with this gene. |
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GCLC |
Glutamate-cysteine ligase, catalytic subunit |
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (OMIM:230450) |
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GPI |
Glucose phosphate isomerase |
Nonspherocytic hemolytic anemia, due to glucose phosphate isomerasedeficiency (OMIM:613470) |
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GSR |
Glutathione reductase |
No diseases associated with this gene. |
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GSS |
Glutathione synthetase |
Hemolytic anemia due to glutathione synthetase deficiency of erythrocytes (OMIM:231900), Glutathione synthetase deficiency (OMIM:266130) |
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HK1 |
Adenylate kinase 1 |
Nonspherocytic hemolytic anemia due to hexokinase deficiency(OMIM:235700) |
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NT5C3A |
5'-nucleotidase, cytosolic IIIA |
Hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency (OMIM:266120) |
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PFKM |
Phosphofructokinase, muscle |
Glycogen storage disease VII (OMIM:232800) |
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PGD |
Phosphogluconate dehydrogenase |
No diseases associated with this gene. |
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PGK1 |
Phosphoglycerate kinase 1 |
Phosphoglycerate kinase 1 deficiency (OMIM:300653) |
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PKLR |
Pyruvate kinase (liver and red blood cell) |
Pyruvate kinase deficiency of red cells (OMIM:266200), Adenosine triphosphate, elevated, of erythrocytes (OMIM:102900) |
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PRDX2 |
Peroxiredoxin 2 |
No diseases associated with this gene. |
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UGT1A1 |
UDP glucuronosyltransferase family 1 member A1 |
Crigler-Najjar syndrome, type I (OMIM:218800), Crigler-Najjar syndrome, TYPE II (OMIM:606785), Hyperbilirubinemia, transient familial neonatalbreastfeeding jaundice, included (OMIM:237900) |
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SLC25A38 |
Solute carrier family 25, member 38 |
Anemia, congenital sideroblastic, b6-nonresponsive (OMIM:205950) |
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TPI1 |
Triosephosphate isomerase 1 |
Triosephosphate isomerase deficiency (OMIM:615512) |
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