Services

Our department is currently offering a wide variety of molecular diagnostic services mainly for inherited diseases. 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.

MGDC 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 

Inherited Nephropathies 

• Autosomal Dominant Polycystic Kidney Disease (ADPKD) - Family Linkage Analysis and PKD1/2 gene mutation detection 
• Autosomal Dominant Medullary Cystic Kidney Disease (ADMCKD) - Family Linkage Analysis
• Nephronophthisis

• Cystinuria - Family Linkage Analysis and SLC3A1 gene mutation detection.

Multiple Sclerosis 

• Oligoclonal Bands detection in cerebrospinal fluid