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Carrier Summary
Beta Thalassemia
Beta Thalassemia
Biotinidase Deficiency
G-6-PD
Gaucher Disease
Maple Syrup Urine Disease
Niemann-Pick's Disease
Phenylketonuria
Severe Combined Immunodeficiency Disease
Sickle Cell Anemia
Spinal Muscular Atrophy
Tay-Sachs Disease
Wilson's Disease Degeneration
X-linked Severe Combined Immunodeficiency

Carrier G-6-PD

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Based on your genetics, your genetic predisposition for G-6-PD is

Positive
Negative
Positive

What does this mean?

 Your genotype indicates that you carry the genetic mutation of glucose-6-phosphate dehydrogenase (G6PD) deficiency.

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How Is Your Genetic Risk Calculated?

This result is based on the SNPs(single nucleotide polymorphism)that are associated with G-6-PD.

Genes
Mutation Type
Clinical Significance
Inheritance Mode
Genes: G6PD
Mutation Type NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
Clinical Significance Pathogenic
Inheritance Mode X Recessive
!

Limitations

This report does not diagnose any health conditions or provide medical advice. This should not be used as a diagnostic tool.
This result is limited to existing scientific research.
Please consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

What is G-6-PD?

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is inherited as an X-linked recessive disorder. This genetic condition was passed down in genes from one or both parents to their children and most often affects males. G6PD deficiency happens when the body doesn't have enough enzyme G6PD which helps to protect red blood cells (RBC) from damage and premature destruction. Without enough G6PD, the RBC break apart and this condition is called haemolysis. Red blood cells that don't have enough G6PD are sensitive to some medicines, foods, and infections. For instances, ingestion of certain types food (eg: fava beans) or exposure to certain types of chemicals (eg: naphthalene a chemical found in mothballs and moth crystals) may trigger acute haemolytic anemia.

Possible Inheritance Modes for G-6-PD

There is one inheritance mode of G-6-PD. Inheritance mode is how a gene will be passed down from parent to offspring.

X Recessive

X-linked recessive disorders are also caused by mutations in genes on the X chromosome. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females.

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