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Multiple endocrine neoplasia type 1 and 4 (MEN1; CDKN1B genes)
MEN1
,
CDKN1B
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
Centrum Menselijke Erfelijkheid - KUL
Multiple endocrine neoplasia, type 1 and 4
MEN1
,
CDKN1B
,
AIP
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
Centrum Medische Genetica - UZ Gent
Pituitary adenoma (4 genes)
MEN1
,
AIP
,
CDKN1B
,
PRKAR1A
Pituitary adenoma (4 genes) - ULG
Familial isolated pituitary adenoma
,
Silent pituitary adenoma
,
Null pituitary adenoma
,
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
,
Carney complex
Centre de Génétique Humaine - CHU Sart-Tilman
Multiple endocrine neoplasia (3 genes)
CDKN1B
,
MEN1
,
RET
Multiple endocrine neoplasia (3 genes) - UCL
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 2B
,
Multiple endocrine neoplasia type 2A
,
Multiple endocrine neoplasia type 4
Centre de Génétique Médicale UCL
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
Amyotrophic Lateral Sclerosis (ALS) (gene panel)
Amyotrophic Lateral Sclerosis (ALS) - UGent
Amyotrophic lateral sclerosis
,
Juvenile amyotrophic lateral sclerosis
,
Amyotrophic lateral sclerosis type 4
Centrum Medische Genetica - UZ Gent
Amyotrophic lateral sclerosis (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72
C9ORF72
Amyotrophic lateral sclerosis type 4
,
Frontotemporal dementia with motor neuron disease
Centrum Medische Genetica - UZ Gent
Transthyretine amyloïdose
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centrum Medische Genetica - UZ Gent
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
,
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis (full sanger screening of the 4 exons for TTR)
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centrum Menselijke Erfelijkheid - KUL
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