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 Maple Syrup Urine Disease
Based on your genetics, your genetic predisposition for Maple Syrup Urine Disease is
Positive
What does this mean?
Your genotype indicates that you carry the genetic mutation of Maple syrup urine disease.
How Is Your Genetic Risk Calculated?
This result is based on the SNPs(single nucleotide polymorphism)that are associated with Maple Syrup Urine Disease.
Genes
Mutation Type
Clinical Significance
Inheritance Mode
Genes: BCKDHB
Mutation Type NM_000056.4(BCKDHB):c.479T>G (p.Ile160Ser)
Clinical Significance Likely pathogenic
Inheritance Mode Autosomal Recessive
Genes: BCKDHB
Mutation Type NM_000056.4(BCKDHB):c.526A>T (p.Asn176Tyr)
Clinical Significance Pathogenic
Inheritance Mode Autosomal Recessive
Possible Inheritance Modes for Maple Syrup Urine Disease
There is one inheritance mode of Maple Syrup Urine Disease. Inheritance mode is how a gene will be passed down from parent to offspring.
Autosomal Recessive
The mutated gene is a recessive gene located on one of the non-sex chromosomes (autosomes). You can get the disease if inheritance both copies of abnormal mutation from your parent.
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