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Laboratory
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
5-fluorouracil toxicity
Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Antwerpen
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
Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Medische Genetica - UZ Antwerpen
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
Clouston syndrome
GJB6
Hidrotic ectodermal dysplasia
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)
FGFR1
Pfeiffer syndrome type 1
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis syndromes (Apert, Crouzon)
FGFR2
Crouzon syndrome
,
Apert syndrome
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centrum Medische Genetica - UZ Antwerpen
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
MT-RNR1
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Centrum Medische Genetica - UZ Antwerpen
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centrum Medische Genetica - UZ Antwerpen
Ectodermal dysplasia
GJB6
Hidrotic ectodermal dysplasia
Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (hot spot mutation - p.Asn540Lys)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Antwerpen
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centrum Medische Genetica - UZ Antwerpen
Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )
MT-TL1
MELAS
Centrum Medische Genetica - UZ Antwerpen
Multiple endocrine neoplasia, type 1
MEN1
Multiple endocrine neoplasia type 1
Centrum Medische Genetica - UZ Antwerpen
Smith Lemli Opitz
DHCR7
Smith-Lemli-Opitz syndrome
Centrum Medische Genetica - UZ Antwerpen
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)
FGFR3
Thanatophoric dysplasia type 1
,
Thanatophoric dysplasia type 2
Centrum Medische Genetica - UZ Antwerpen
Von Willebrand disease
VWF
Von Willebrand disease type 1
,
Von Willebrand disease type 2A
,
Von Willebrand disease type 2M
,
Von Willebrand disease type 2B
,
Von Willebrand disease type 2N
,
Von Willebrand disease type 3
Centrum Medische Genetica - UZ Antwerpen
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