Molecular Genetics, Function & Therapy Department

The MGFT department is accredited with ISO 15189 and is currently offering a wide variety of molecular diagnostic services mainly for inherited diseases.  Since January 2020, MGFT has become an affiliated Reference Centre for the European Reference Network on Rare Endocrine Conditions (Endo-ERN).

The aim is to provide the clinician with qualitative and quantitative data regarding the aetiology and pathogenesis of a disease. This valuable data assists clinicians with diagnosis, patient stratification, drug prescription, and prognosis.

MGFT is currently offering diagnostic services for the following diseases:
 
 

Congenital Adrenal Hyperplasia

• CYP21A2 gene mutation detection

 
Cystic Fibrosis
 

• CFTR gene mutation detection
• Sweat Test

 
Familial Mediterranean Fever
 

• MEFV gene mutation detection

 
Haemochromatosis
 

• HFE gene mutation detection

 
Inherited cancer forms
 

• RET proto-oncogene mutation detection (multiple endocrine neoplasia type 2A/2B)

 
Inherited Deafness
 

• Connexin 26/30 (GJB2/6) gene mutation detection

  
Multiple Sclerosis
 

• Oligoclonal Bands detection in cerebrospinal fluid

 
Obesity
 

• MC4R Gene mutation analysis
• FTO Gene mutation analysis

 
Maturity onset diabetes of the young
 

• GCK gene mutation analysis
• HN1a gene mutation analysis 

5-alpha Reductase deficiency
 

• SRD5a gene mutation detection

 
Growth hormone deficiency
 

• PROP1 gene mutation detection