DIAGNOSTIC SERVICES

The users of the following services are requested to read carefully the guidelines and to contact  the staff of laboratory  

Genetic Counselling for Genetic Metabolic Diseases

Biochemical and/or Molecular Diagnosis for the following Pathologies:

• Alexander >>>>> in collaboration with "GENETICA MOLECOLARE" LAB
• Angelman
• Austin
• Fabry
• Fucosidosis
• Galactosialidosis
• Gangliosidosis GM 1
• Gangliosidosis GM2 B1 Var
• Gaucher
• Glycogen Storage Disease Ia
• Glycogen Storage Disease II
• Krabbe
• Mannosidosis
• Metachromatic Leucodystrophy
• Metachromatic Leucodystrophy Sap B def
• Mucolipidosis
• Mucopolysaccharidosis I
• Mucopolysaccharidosis II
• Mucopolysaccharidosis IIIA
• Mucopolysaccharidosis IIIB
• Mucopolysaccharidosis IIIC
• Mucopolysaccharidosis IIID
• Mucopolysaccharidosis IVA
• Mucopolysaccharidosis IVB
• Mucopolysaccharidosis VI
• Neuronal Ceroid Lipofuscinosis Infantile
• Niemann-Pick
• Pelizaeus-Merzbacher
• Prader Willi
• Pycnodysostosis
• Sandhoff
• Sialiac Acid Storage
• Tay-Sachs
• Wolman

Screening for ASA Pseudodeficiency

 

The service has been operating since 1976. Besides the analyses that are feasible at our laboratory, prenatal diagnoses for other metabolic diseases are possible  for those families in which the index case was diagnosed through our laboratory. Here below are the pathologies diagnosed in the prenatal period:

• Adrenal Hyperplasia Congenital *
• Adrenoleukodystrophy *
• Argininemia *
• Arginosuccinicoaciduria *
• Aspartylglycosaminuria *
• Austin
• Cox Def. *
• Cystinosis *
• Fabry
• Fucosidosis
• Galactosemia *
• Galactosialidosis
• Gangliosidosis GM 1
• Gangliosidosis GM2 B1 VAR
• Gaucher
• Glutaricacidemia *
• Glycogen Storage Disease Ia
• Glycogen Storage Disease II
• Glycogen Storage Disease III *
• Homocystinuria *
• Isovalericacidemia *
• Krabbe
• Lesch-Nyhan *
• Lipase Acid Def.
• Mannosidosis
• Maple Syrup Urine Disease *
• Menkes *
• Metachromatic Leucodystrophy
• Methylmalonicoacidemia *
• MMA-Homocystinuria *
• Mucolipidosis II
• Mucopolysaccharidosis I
• Mucopolysaccharidosis II
• Mucopolysaccharidosis III A
• Mucopolysaccharidosis III B
• Mucopolysaccharidosis III C
• Mucopolysaccharidosis III D
• Mucopolysaccharidosis IV A
• Mucopolysaccharidosis VI
• Neuraminidase Deficiency
• Niemann-Pick A e B
• Niemann-Pick C
• Pelizaeus-Merzbacher
• Propionicacidemia *
• Pyruvate Carboxylase Def. *
• Sandhoff
• SCID-ADA *
• Sjogren-larsson *
• Tay-Sachs
• Triglyceride Storage *

  * in collaboration with other centres

• EBV transformed lymphoblast cultures from human blood
• fibroblasts, amniocytes and chorionic villous cells from appropriate tissues

• cryopreservation of primary or transformed cell lines
• storage of DNA