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 ( Turnaround time: 12 weeks)

Cystic Fibrosis 

• CFTR gene mutation detection ( Turnaround time: 28 days)
• Sweat Test (Turnaround time: 5 days)

Hereditary Recurrent Fevers (HRFs)

• Familial Mediterranean Fever - MEFV gene mutation detection (Turnaround time: 28 days)
• Hereditary Recurrent Fevers (HRFs) in silico panel from WES (Turnaround time: 12 weeks)

Haemochromatosis

• HFE gene mutation detection (Turnaround time: 28 days)

Inherited Deafness

• Hearing Loss in silico panel from WES (Turnaround time: 12 weeks)
• Connexin 26/30 (GJB2/6) gene mutation detection (Turnaround time: 28 days)

Multiple Sclerosis

• Oligoclonal Bands detection in cerebrospinal fluid (Turnaround time: 3 weeks)

Glucose and Insulin Homeostasis (MODY and Obesity)

• Glucose and Insulin Homeostasis in silico panel from WES (Turnaround time: 12 weeks)
• MC4R Gene mutation analysis (Turnaround time: 28 days)

Thyroid Function

• Thyroid Function in silico panel from WES (Turnaround time: 12 weeks)
• RET proto-oncogene mutation detection (multiple endocrine neoplasia type 2A/2B)(Turnaround time: 28 days)

Disorders of Sexual Differentiation

• Disorders of Sexual Differentiation in silico panel from WES (Turnaround time: 12 weeks)
• SRD5a gene mutation detection (Turnaround time: 28 days)

Premature and Delayed Puberty

• Premature and Delayed Puberty in silico panel from WES (Turnaround time: 12 weeks)
• MKRN3 Gene mutation analysis (Turnaround time: 28 days)

Whole Exome Sequencing by NGS (Turnaround time: 12 weeks)