Mygenia Hereditary Health Risk Assessment

What is autosomal recessive and autosomal dominant inherited disease?

Most of the inherited disease can be categorized autosomal recessive (AR) and autosomal dominant (AD). When the disease is autosomal recessive, the disease will appear when the children inherit two copies of the same mutated gene, one copy from each parent. When the disease is autosomal dominant, the disease will appear when the children inherit either one copy of the mutated gene from either parent. Some of the diseases can be categorized as sex-linked too, which mean only male/ female can inherit such diseases.

Depending on the hereditary nature of the disease (autosomal recessive, autosomal dominant or sex-link), the chance of having diseased children will be different. If both parents are carriers of the same autosomal recessive disease, they will have 25% chance of having normal children, 50% having a Carrier children, and 25% having diseased children.

Some autosomal dominant diseases have late onset

Some autosomal dominant diseases will show symptoms as early as after birth, however some will show symptoms in adult stage. This is called late onset hereditary disease. For example, patient with Wilson’s disease will have a normal development until the age of 10. Often symptoms will appear between the age of 10 to 20, which include brain degeneration and cirrhosis due to hepatocyte fibrosis. It can be fatal if left untreated, thus late onset hereditary disease is a critical matter which we need to pay attention to.

After the assessment, you can

  • Effective treatment with early discovery

We should test for these hereditary disease symptoms before they appear. With early discovery and treatment, we can stop them from progressing. Such as the Wilson’s diseases, if we can discover it early and take action, the treatment can still be effective even if it is progressed to the late stage.

  • After the assessment,

You can Prepare better for your children if you can understand the genetic status of your children, you can consult doctor with the assessment report. Preventive measure and treatment can be performed early, in order to plan a better future for your children.

Who should do the test?

New born baby

-With family history of hereditary diseases

-Parent(s) suspect that they are carrying genetic mutation of hereditary disease

(Suggested to perform a comprehensive screening for their new born children)

Test Specifications

Test Code
Methodology
Specimen Requirements
Turnaround Time
RGS
Next generation sequencing (NGS)
6mL blood in EDTA tube/buccal swab
30 days

Precautions before testing

No transfusion of blood 1 month before the test

No organ Transplantation

What should I do if my test results are positive?

Please counsel your physicians or genetic counselor for professional advice before taking any actions.

Sharing the result with family members.

How to get started

Our tests must be ordered by a doctor. Ask your doctor if a Mygenia test is right for you. We can help you find a doctor if you don’t have one.

I have a doctor