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Hereditary Alpha Tryptasemia
TPSAB1
Hereditary Alpha Tryptasemia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hyperekplexia (gene panel-6 genes)
Hyperekplexia (6 genes) - IPG
Hereditary hyperekplexia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Intellectual Disability (gene panel)
Intellectual Disability (104 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Azoo-oligospermia (microdeletion of 3' regions of Y chromosome AZF a, b and c)
Yq11
Partial chromosome Y deletion
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
TRANSTHYRETIN (TTR) Analysis
TTR
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lipodystrophy and/or hyperinsulinism (gene panel)
Lipodystrophy and/or hyperinsulinism (30 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Obesity (gene panel)
Obesity - 13 genes - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dilated Cardiomyopathy (Gene panel)
Dilated Cardiomyopathy (79 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
End-stage renal disease, ESRD (gene panel)
End-stage renal disease (106 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nephrocalcinosis and nephrolithiasis (gene panel)
Nephrocalcinosis and nephrolithiasis (37 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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)
Autism (gene panel)
Autism (57 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Bronchiectasies with or without elevated sweat chloride panel (5 genes)
CFTR
,
SCNN1A
,
SCNN1B
,
SCNN1G
Pulmonary/Bronchiectasies (5 genes) - IPG
Idiopathic bronchiectasis
,
Cystic fibrosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Renal or urinary tract malformation (CAKUT) (gene panel)
Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Autosomal recessive polycystic kidney disease
,
Autosomal dominant polycystic kidney disease
,
Isolated polycystic liver disease
,
Infantile nephronophthisis
,
Juvenile nephronophthisis
,
Late-onset nephronophthisis
,
Bardet-Biedl syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Epilepsy, seizures (gene panel)
Epilepsy, seizures (196 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fabry disease
GLA
Fabry disease
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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