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 |
How are recessive genetic diseases inherited ?
2 out of 5 people carry defective genes
Recessive genetic diseases are caused by pathogenic gene mutations located on chromosomes; two copies of the same mutated gene from each parent may cause a disease. If only one defective gene is inherited in a recessive manner, the child does not have any symptoms. In other words, if both patients are carriers of pathogenic gene mutations of the same recessive disease, the child has a 25% chance of being severely affected.
Pangenia Newborn Inherited And Metabolic Diseases Genetic Screening
| Coverd over 450 types of metabolic disorders and inherited diseases | |
| The technology accuracy rate as high as 99.9% |
| Metabolic Disorders (154 Types) |
|---|
| Amino Acid Metabolism Disorders (36 Types) |
| Organic Acid Metabolism Disorders（9 Types） |
| Fatty Acid Metabolism Disorders（37 Types） |
| Carbohydrate Metabolism Disorders（38 Types） |
| Vitamin Metabolism Disorders（2 Types） |
| Mineral Metabolism Disorders（9 Types） |
| Peroxisome Disorders（11 Types） |
| Other Metabolism Disorders（12 Types） |
| Other Dominant and Recessive Inherited Diseases （303 Types） |
|---|
| Thalassemia A and B |
| Cystic Fibrosis |
| Sickle Anemia |
| Hearing Loss |
| Albinism |
| Spinal Muscular Atrophy |
| Spinocerebellar Atrophy |
| G6PD Deficiency |
| Hemophilia A & B |
Who is suitable for this test
| Newborns from 0 days old | |
| Newborns who need a genetic confirmatory test for the metabolic problems | |
| Newborns who were failed in the hearing loss assessment test | |
| Newborns with clinical symptoms such as delayed jaundice, feeding difficulties, vomiting, diarrhea, anemia, etc. |
Test Specifications
| Test Code | Specimen Requirements | Turnaround Time |
|---|---|---|
| RBS | 10 buccal swab | 3-4 Weeks |
Reference
- * European Organisation of Rare Diseases
- + 香港統計月刊 2020年3月 Hong Kong