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Analytes
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Disease
Laboratory
Pituitary adenoma (5 genes)
AIP
,
CDKN1B
,
MEN1
,
RET
,
PRKAR1A
Pituitary adenoma (5 genes) - UCL
Familial isolated pituitary adenoma
,
Silent pituitary adenoma
,
Null pituitary adenoma
,
Prolactinoma
,
Pituitary gigantism
,
Acromegaly
Centre de Génétique Médicale UCL
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)
Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
Hemolytic uremic syndrome with DGKE deficiency
,
Atypical hemolytic uremic syndrome with anti-factor H antibodies
,
Atypical hemolytic uremic syndrome with complement gene abnormality
,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
,
Atypical hemolytic-uremic syndrome with B factor anomaly
,
Atypical hemolytic-uremic syndrome with H factor anomaly
,
Atypical hemolytic-uremic syndrome with C3 anomaly
,
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
,
Atypical hemolytic-uremic syndrome with I factor anomaly
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
CYP2C19*2,*3,*17 genotyping - drug metabolism - Pharmacogenetics
CYP2C19
Antidepressant or antipsychotic toxicity or dose selection
,
Resistance to clopidogrel
,
Voriconazole toxicity
Centre de Génétique Médicale UCL
CYP2D6 genotyping (full gene sequencing + pseudogene and CNV analysis)- drug metabolism - Pharmacogenetics
CYP2D6
Codeine toxicity
,
Resistance to tamoxifene
,
Antidepressant or antipsychotic toxicity or dose selection
Centre de Génétique Médicale UCL
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)
BSCL2
Autosomal dominant spastic paraplegia type 17
,
Severe neurodegenerative syndrome with lipodystrophy
,
Distal hereditary motor neuropathy type 5
,
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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