Genetic tests

Full name Analytes Gene panels Disease Laboratory
Carnitine Palmitoyltransferase type II CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Somatic analysis of the BRCA genes in the context of ovarian cancer treatment (2 genes) BRCA1, BRCA2 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Agnathia-otocephaly complex PRRX1 Agnathia-holoprosencephaly-situs inversus syndrome 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)
Hyperekplexia (gene panel-6 genes) Hyperekplexia (6 genes) - IPG Hereditary hyperekplexia 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)
Intellectual Disability (gene panel) Intellectual Disability (104 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Aarskog-Scott syndrome FGD1 Aarskog-Scott syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cataract, juvenile with microcornea and glucosuria SLC16A12 Juvenile cataract-microcornea-renal glucosuria syndrome 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)
Alport autosomal recessive and X-linked and hematuria (3 genes) COL4A3, COL4A4, COL4A5 Alport (X-linked and recessive) (3 genes) - IPG Autosomal recessive Alport syndrome, X-linked Alport syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia TTR ATTRV30M amyloidosis, ATTRV122I amyloidosis, Hereditary ATTR amyloidosis 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)
End-stage renal disease, ESRD (gene panel) End-stage renal disease (106 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)
TRANSTHYRETIN (TTR) Analysis TTR Hereditary ATTR amyloidosis 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)
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)
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)
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