NJ Newborn Genetic Screening

What is Inherited Metabolic Disorders?

One in every 2,000 babies worldwide suffers from congenital rare diseases*, including metabolic diseases. In Hong Kong, about 1 out of every 4,000 newborn babies has a congenital genetic metabolic disease+. Because the symptoms of early neonatal genetic diseases are not obvious, the disease may not be diagnosed by symptoms (or symptoms often appear slower), and now more than 400 neonatal inherited and metabolic diseases can be screened through NGS technology for early detection and prevention of diseases for which symptoms have not yet appeared in the newborn period.

  • Inherited Metabolic Disorders (also referred as Inborn Errors of Metabolism) are genetic defects that result in enzyme deficiency and metabolism problems
  • Patients who fail to receive proper treatment have a chance to develop various diseases including mental retardation
  • Most disorders can be diagnosed by biochemical testing as well as genetic screening at birth
  • Untreated metabolic disorders can be detrimental and affect body development, cause cardiac failure or even life threatening in some cases
  • For the benefit of infant health, an early diagnosis with appropriate treatment is of paramount importance

Reference

*European Organisation of Rare Diseases

+香港統計月刊 2020年3月 Hong Kong

Test content

Metabolic Disorders(154 Types) Other Dominant and Recessive Inherited Diseases(303 Types)
Amino Acid Metabolism Disorders (36 Types) Thalassemia A and B G6PD Deficiency
Organic Acid Metabolism Disorders(9 Types) Cystic Fibrosis Hemophilia A
Fatty Acid Metabolism Disorders(37 Types) Sickle Anemia Hemophilia B
Carbohydrate Metabolism Disorders(38 Types) Hearing Loss  
Vitamin Metabolism Disorders(2 Types) Albinism  
Mineral Metabolism Disorders(9 Types) Spinal Muscular Atrophy  
Peroxisome Disorders(11 Types) Spinocerebellar Atrophy  
Other Metabolism Disorders(12 Types)    

 

Who should do the test?

• Newborns from 0 days old

• Newborns who were failed in the hearing loss assessment test

• Newborns with clinical symptoms such as delayed jaundice, feeding difficulties, vomiting, diarrhea, anemia, etc.

• Newborns who need a genetic confirmatory test for the metabolic problems 

Test Specifications

Test Code
Methodology
Specimen Requirements
Turnaround Time
RBS
Next generation sequencing (NGS)
10 buccal swab
14 working days

What should I do if test results are positive?

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

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