Genes & Diseases - What we test for

ABCD SYNDROME

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME

ACHONDROGENESIS, TYPE 1B ACG1B

ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF

ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF

ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC (SEVERE) FORM

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING FORM

ADRENOLEUKODYSTROPHY

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

AGAMMAGLOBULINEMIA, X-LINKED

AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY

AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 2

AICARDI-GOUTIERES SYNDROME 3

AICARDI-GOUTIERES SYNDROME 4

AICARDI-GOUTIERES SYNDROME 5

ALLAN-HERNDON-DUDLEY SYNDROME AHDS

ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

ALPHA THALASSEMIA

ALPHA-METHYLACETOACETIC ACIDURIA

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME,NONDELETION TYPE, X-LINKED

ALPORT SYNDROME, AUTOSOMAL RECESSIVE

ALPORT SYNDROME, X-LINKED

ALSTROM SYNDROME

AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL

AMISH INFANTILE EPILEPSY SYNDROME

ANAUXETIC DYSPLASIA

ANHYDROTIC ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY, OSTEOPETROSIS, LYMPHEDEMA OLEDAID

ANTIBODY DEFICIENCY DUE TO ICOS DEFECT

ANTLEY-BIXLER SYNDROME

ARGININOSUCCINIC ACIDURIA

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

ARTERIAL CALCIFICATION, GENERALISED, OF INFANCY

ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, 1

ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, 2

ARTS SYNDROME

ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2

ASPHYXIATING THORACIC DYSTROPHY 2

ASPHYXIATING THORACIC DYSTROPHY 3

ATAXIA TELANGIECTASIA

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA

ATELOSTEOGENESIS, TYPE 2

ATYPICAL MYCOBACTERIOSIS, FAMILIAL

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, 27A

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, 28

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, 29

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, 33

ATYPICAL MYCOBACTERIOSIS, FAMILIAL,30

AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 1