Genetic Counselling: the biomedical bridge between molecular diagnosis and precision treatment

Egyptian Journal of Medical Human Genetics

Table 4 Main diseases being covered by New Born Screening (NBS) programs in different regions of world. Following the Wilson-Jungner criteria CH, PKU, Galactosemia, amino acid disorders, Fatty acid oxidation disorders and organic acid disorders are almost being screened worldwide

Disease	USA	CANADA	Middle East & North Africa	Asia	Latin America	EUROPE	Specific Country, if Any
PKU	√	√	√	√	√	√
CH	√	√	√	√	√	√
CAH	√	√		√	√	√
G6PD Deficiency	√	√	√	√	√	√
Cystic Fibrosis	√	√		√	√	√
Galactosemia	√	√	√	√	√	√
Hemoglobinopathies		√		√		√
Biotinidase Deficiency		√			√	√
Guanidinoacetate Methyltransferase Deficiency							Qatar
Primary Immuno Deficiency Disease	√					√	Lebanon
Lysosomal Storage Disorder (LSD)	√		√	√	√	√
Amino Acid Disorder	√	√	√	√	√	√
Fatty Acid Oxidation Disorder	√	√	√	√	√	√
Organic Acid Disorder	√	√	√	√	√	√
Toxoplasmosis	√

Primary Immunodeficiency diseases like SCID are being screened using Quantitative PCR, from 2018 onwards this is being included in the NBS panel Germany, Qatar and few more countries. PKU Phenylketonuria, CH Congenital Hypothyroidism, CAH Congenital Adrenal Hyperplasia [12,13,14]