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Analytes
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Disease
Laboratory
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )
MT-TL1
MELAS
Centrum Medische Genetica - UZ Antwerpen
Maternally inherited deafness
MT-TS1
Rare mitochondrial non-syndromic sensorineural deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (full sequencing)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
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
Hereditary nonpolyposis colorectal cancer (gene panel)
MLH1
,
MSH2
,
MSH6
,
PMS2
,
EPCAM
,
APC
,
BMPR1A
,
CDH1
,
GREM1
,
MSH3
,
MUTYH
,
NTHL1
,
POLD1
,
POLE
,
PTEN
,
STK11
,
SMAD4
,
TP53
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
,
Constitutional mismatch repair deficiency syndrome
Centre de Génétique Médicale UCL
Constitutional Mismatch Repair Deficiency Syndrome (4 genes)
Constitutional Mismatch Repair Deficiency Syndrome (4 genes) - KUL
Constitutional mismatch repair deficiency syndrome
,
Lynch syndrome
Centrum Menselijke Erfelijkheid - KUL
Hereditary nonpolyposis colorectal cancer / Lynch syndrome (8 genes)
MLH1
,
MSH2
,
MSH6
,
EPCAM
,
MUTYH
,
POLE
,
POLD1
,
TP53
Hereditay Non Polyposis Colorectal Cancer (8 genes) - ULG
Lynch syndrome
,
Constitutional mismatch repair deficiency syndrome
,
Hereditary nonpolyposis colorectal cancer
Centre de Génétique Humaine - CHU Sart-Tilman
Microsatellites instability analysis- MMR genes
MLH1
,
MSH2
,
MSH6
,
PMS2
Lynch syndrome
,
Constitutional mismatch repair deficiency syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Arterial Tortuosity Syndrome
SLC2A10
,
EFEMP2
Arterial tortuosity syndrome
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
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