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Laboratory
Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel)
TYR
,
OCA2
,
TYRP1
,
SLC45A2
,
SLC24A5
,
LRMDA
,
GPR143
Ocular and oculocutaneous albinism - UGent
Oculocutaneous albinism type 1A
,
Oculocutaneous albinism type 1B
,
Oculocutaneous albinism type 2
,
Oculocutaneous albinism type 3
,
Oculocutaneous albinism type 4
,
Oculocutaneous albinism type 6
,
Oculocutaneous albinism type 7
Centrum Medische Genetica - UZ Gent
Neurofibromatosis type 1 / Legius syndrome
NF1
,
SPRED1
Neurofibromatosis type 1
,
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
,
17q11 microdeletion syndrome
,
Legius syndrome
Centrum Medische Genetica - UZ Gent
Mitochondrial disorders, mitchondrial DNA based (Full sequencing of mtDNA genome)
mitochondrial disorders, mitochondrial DNA based / mtDNA resequencing - VUB
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
,
Autosomal dominant progressive external ophthalmoplegia
,
Autosomal recessive progressive external ophthalmoplegia
,
Isolated cytochrome C oxidase deficiency
,
Maternally-inherited diabetes and deafness
,
Kearns-Sayre syndrome
,
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
,
Mitochondrial DNA depletion syndrome, myopathic form
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
,
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
,
Proximal myopathy with focal depletion of mitochondria
,
Pearson syndrome
Centrum Medische Genetica - UZ Brussel VUB
Maternally-inherited diabetes and deafness / Mitochondrial myopathy with reversible cytochrome C oxidase deficiency / mitochondrial tRNA glutamic acid
MT-TE
Maternally-inherited diabetes and deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
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)
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