Precision Health Care

We are working with world class researchers to select suitable genes for newborns in Taiwan and to develop the protocol from pre-test genetic counseling to post-test health care, aiming to provide a strong tool to enhance newborn health management for pediatricians and parents in Taiwan.

Expanded Carrier Screening

An expanded self-paid carrier screening that helps parents detect, compared to traditional carrier screening, a wider range of potential genetic disorder risks and genetic insights on lifelong health for their baby. We use our proprietary WES PLUS (WES + lcWGS) technology to achieve optimal cost-efficiency and accuracy.

Preemptive Newborn Sequencing

An universal self-paid newborn sequencing report designed to provide early detection of actionable genetic disorder and genetic insights on lifelong health for the newborn. We use short read WGS technology for newborn and offer re-analyzing service to achieve better accuracy and excellent long-term care.

NICU Diagnostic

We offer our clients a research-based newborn sequencing report designed to deliver instant scientific evidence of genetic disorder for newborns, who go to neonatal intensive care unit (NICU) before the preemptive newborn sequencing report is delivered, helping the pediatricians make informed decisions. We will use rapid-WGS technology to achieve 72 hours report delivery.

Why is Newborn Sequencing Important?

Many genetic conditions take time to show symptoms and are irreversible. Our newborn sequencing report screens for over 400 actionable conditions so you can detect health risks early and take proactive measures.

 

Diseases under our lists

Wilson’s Disease
Fabry Disease (FAD)
Mucopolysaccharidosis (MPS)

Wilson’s Disease is a genetic disorder that prevents the body from removing copper and can be a progressive form of liver failure. It is usually unknown until copper builds up in the liver, brain, or other organs and initiates symptoms, but easy to treat when identified early.

 

  • 1 out of every 56,000 infants in Taiwan. Most people are
  • diagnosed between 5 and 35 years old.
  • Neurological complications may cause developmental delay.
  • Liver transplant may be necessary.

Fabry disease is a rare, inherited disorder caused by a deficiency in the enzyme alpha-galactosidase A, leading to a buildup of a fatty substance called globotriaosylceramide in the body’s tissues, particularly affecting the kidneys, heart, and blood vessels. Treatments can help manage symptoms and slow the progression of the disease.

 

  • 1 out of 1,250 male infants in Taiwan.
  • Symptoms are typically first experienced in early childhood and sometimes lead to misdiagnosis.
  • May lead to irreversible damage and dysfunction in various organs if proper treatments are not delivered.
  • A genetic test is usually needed to confirm the diagnosis.

Mucopolysaccharidoses are a group of rare, inherited lysosomal storage disorders where the body lacks enzymes needed to break down complex sugar molecules called glycosaminoglycans (GAGs). This leads to GAG accumulation in cells and tissues, causing various health problems and affecting multiple organ systems. Early diagnosis and treatment, ideally before the onset of significant symptoms, are essential for maximizing the benefits of these therapies.

 

  • 3 out of 1,000 infants in the Asian population.
  • 7 types of MPS, each with a different enzyme deficiency and clinical presentation.
  • Onset is usually between ages 2 and 10 years.
  • Will cause irreversible damage such as skeletal and intellectual development delays or neurological decline.
  • Genetic test is used to confirm the diagnosis and identify the specific genetic mutation responsible for the disease.
  • Early diagnosis allows for prompt initiation of treatments like ERT and HSCT before onset, potentially preventing or delaying the development of severe symptoms.

Partners

asset 5
asset 4
asset 6
asset 5
asset 4
asset 6
asset 5
asset 4
asset 6

Contact Us

We are looking for partners worldwide to improve public health together!