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Analytes
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Disease
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Treacher Collins (gene panel)
POLR1C
,
POLR1D
,
TCOF1
Treacher Collins (3 genes) - UZA
Treacher-Collins syndrome
Centrum Medische Genetica - UZ Antwerpen
Sturge-Weber syndrome (gene panel)
Sturge-Weber syndrome (65 genes) - KUL
Sturge-Weber syndrome
Centrum Menselijke Erfelijkheid - KUL
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
Centrum Menselijke Erfelijkheid - KUL
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Alport syndrome
,
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nephrotic syndrome - steroid resistant
COQ8B
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Centre de Génétique Humaine - CHU Sart-Tilman
Enzymatic dosage MPS1/Hurler syndrome
Hurler-Scheie syndrome
,
Hurler syndrome
Centrum Medische Genetica - UZ Brussel VUB
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