Newborn Inherited And Metabolic Diseases 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

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

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