If you are looking for a certified genetic disorder clinic in Bangkok, visit Samitivej Hospital’s Genetics and Genomic Medicine Clinic. Fully-equipped with state-of-art technologies, we offer comprehensive treatment for your child’s mental health, including those with Down’s syndrome and autism.

Genetic disorders or inherited diseases are well known and common in society, and include dwarfism, neurofibromatosis, Down’s syndrome, hemophilia, and thalassemia. However, many people do not realize that most congenital disorders, such as certain type of mental retardation, certain type of epilepsy, failure to thrive, or a condition in which the child lacks physical resemblance to their parents, may not necessarily have appeared in a family history. Many of these diseases and disorders can be cured if a correct diagnosis is made, and some can even be prevented from occurring by obtaining a diagnosis prior to giving birth. Family members must consult their physician to obtain a correct understanding of these diseases and disorders.

Diagnostic Services Offered for the Following Conditions:

Syndromic Disorders:

• Down syndrome  
• Edwards syndrome  
• Patau syndrome  
• Turner syndrome  
• Klinefelter syndrome  
• 22q11.2 deletion syndrome (DiGeorge syndrome)  
• Williams syndrome  
• Prader-Willi syndrome  
• Angelman syndrome  
• And other related genetic syndromes

Inherited Metabolic Disorders (Inborn Errors of Metabolism):

• Urea cycle disorders  
• Organic acidemias  
• Fatty acid oxidation disorders  
• Maple syrup urine disease (MSUD)  
• And other metabolic diseases

Lysosomal Storage Disorders (LSDs):

• Mucopolysaccharidoses (MPS)  
• Gaucher disease  
• Pompe disease  
• Niemann-Pick disease  
• And other lysosomal storage diseases

Single-Gene Disorders:

• Genetic epilepsies  
• Genetic and metabolic liver diseases  
• Intellectual disability  
• Autism spectrum disorder  
• Achondroplasia  
• Neurofibromatosis  
• And other monogenic disorders

Genetic Testing Services:

• Chromosome analysis (karyotyping)  
• Chromosomal microarray analysis (CMA)  
• Genetic testing for disease-associated genes (e.g., Whole Exome Sequencing, Targeted Gene Panels)  
• Tandem Mass Spectrometry (TMS) – Comprehensive Metabolic Screening  
• Gas Chromatography-Mass Spectrometry (GC/MS) – Urine Organic Acid Analysis  
• Plasma Amino Acid Analysis  
• DNA PCR Sequencing and Biochemical Testing  

Genetic Counseling Services:

• Genetic counseling and risk assessment for patients and families

• Comprehensive care and management for patients with rare diseases

Treatment Services:

• Enzyme replacement therapy (ERT)  
• Targeted gene-specific therapy  
• Disease-specific nutritional therapy