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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
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Spinal Muscular Atrophy
Tay-Sachs Disease
Wilson's Disease Degeneration
X-linked Severe Combined Immunodeficiency

Carrier Niemann-Pick's Disease

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Based on your genetics, your genetic predisposition for Niemann-Pick's Disease is

Negative
Negative
Positive

What does this mean?

 Your genotype indicates that you do not carry the genetic mutation of Niemann-Pick's disease.

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How Is Your Genetic Risk Calculated?

This result is based on the SNPs(single nucleotide polymorphism)that are associated with Niemann-Pick's Disease.

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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 Niemann-Pick's Disease?

The Niemann-Pick disease (NPD) is a rare autosomal recessive lipid storage disorders that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase (ASM), an enzyme that catalyses the breakdown of sphingomyelin and the accumulation of sphingomyelin in various affected tissues. NPD can affect the brain, spleen, nerves, liver, bone marrow and in severe case, lungs. In the event where ASM is missing or does not work properly, sphingomyelin builds up inside cells and can eventually kills the cells and makes it hard for organ to work properly.

Signs and Symptoms

Possible Inheritance Modes for Niemann-Pick's Disease

There are multiple inheritance modes of Niemann-Pick's 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.

Autosomal Recessive/Hetero

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. Currently it is not able to completely differentiate between heterozygous (one copy of the abnormal mutation) and two copies of the abnormal mutation.

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