The preindications for access to genomic diagnosis were selected by the HAS and validated by the operational committee of the France Genomic Medicine Plan 2025.
You can access the file for each preindication by clicking on their name in the table below. You can search for them by keywords or filter the following table by field, type and carriage of the preindication.
In each preindication sheet, you will find: the names of the referents and the rare diseases health sector (FSMR) or learned society carrying the preindication, a presentation of each preindication, the criteria before considering a discussion in RCP-FMG, the diagnostic strategy, and the organization in the territory of the RCP-FMG with contacts of the coordinators.
The preindication sheets are downloadable and printable.
The table below is subject to change; we invite you to consult it regularly for updates.
Domain
|
Type
|
Portage
|
Pre-indication |
---|---|---|---|
Rare diseases | Bone and joint diseases | OSCAR | Constitutional bone diseases |
Rare diseases | Bone and joint diseases | OSCAR | Syndromes with major joint hyperlaxity, without intellectual deficit |
Rare diseases | Dermatological diseases | FIMARAD | Genodermatoses |
Rare diseases | Endocrine and metabolic diseases | FILNEMUS | Mitochondrial diseases |
Rare diseases | Endocrine and metabolic diseases | FIRENDO | Combined pituitary deficiencies (at least 2 anterior pituitary deficiencies) of neonatal or later onset |
Rare diseases | Endocrine and metabolic diseases | FIRENDO | Cushing's syndrome due to bilateral nodular adrenal hyperplasia AND Primary Adrenal Insufficiency |
Rare diseases | Endocrine and metabolic diseases | FIRENDO | Dysfunction of the thyrotropic axis |
Rare diseases | Endocrine and metabolic diseases | FIRENDO | Neonatal diabetes |
Rare diseases | Endocrine and metabolic diseases | FIRENDO | Pituitary hormonal hypersecretions |
Rare diseases | Endocrine and metabolic diseases | FIRENDO | Rare diabetes in young people and lipoatrophic diabetes |
Rare diseases | Endocrine and metabolic diseases | FIRENDO | Rare primary dyslipidemias |
Rare diseases | Endocrine and metabolic diseases | FIRENDO | Severe abnormalities of sexual differentiation of gonadal and hypothalamic-pituitary origin |
Rare diseases | Endocrine and metabolic diseases | G2M | Hereditary metabolic diseases |
Rare diseases | Endocrine and metabolic diseases | OSCAR | Rare pathologies of phospho-calcium metabolism |
Rare diseases | Fertility disorders | FIRENDO | Primary ovarian failure |
Rare diseases | Fertility disorders | FIRENDO | Rare male infertility |
Rare diseases | Heart and vascular diseases | CARDIOGEN | Familial cardiomyopathies |
Rare diseases | Heart and vascular diseases | CARDIOGEN | Hereditary rhythm disorders |
Rare diseases | Heart and vascular diseases | FAVA-Multi | Diseases of medium-sized arteries |
Rare diseases | Heart and vascular diseases | FAVA-Multi | Marfan syndrome and related pathologies, familial forms of thoracic aortic aneurysms |
Rare diseases | Heart and vascular diseases | FAVA-Multi | Primary lymphedema |
Rare diseases | Heart and vascular diseases | FAVA-Multi | Rendu-Osler disease |
Rare diseases | Heart and vascular diseases | FAVA-Multi | Superficial arteriovenous and CNS malformations with aggressive potential |
Rare diseases | Hematological diseases | MaRIH | Bone marrow aplasia and hypoplasia |
Rare diseases | Hematological diseases | MaRIH | Histiocytosis without BRAFV600E mutation |
Rare diseases | Hematological diseases | MaRIH | Severe chronic neutropenia |
Rare diseases | Hematological diseases | MaRIH | Unexplained clonal hypereosinophilic syndromes |
Rare diseases | Hematological diseases | MCGRE | Constitutional diseases of the red blood cell |
Rare diseases | Hematological diseases | MHEMO | Hemostasis pathologies |
Rare diseases | Hepatorenal and digestive diseases | FILFOIE | Severe liver pathologies with pediatric symptoms |
Rare diseases | Hepatorenal and digestive diseases | FIMATHO | Chronic pancreatitis of genetic origin |
Rare diseases | Hepatorenal and digestive diseases | FIMATHO | Congenital enteropathy in young children |
Rare diseases | Hepatorenal and digestive diseases | ORKID | Chronic kidney disease |
Rare diseases | Immunological and auto-inflammatory diseases | FAI²R | Monogenic autoinflammatory and autoimmune diseases |
Rare diseases | Immunological and auto-inflammatory diseases | MaRIH | Hereditary bradykinic angioedema |
Rare diseases | Immunological and auto-inflammatory diseases | MaRIH | Hereditary immune deficiencies |
Rare diseases | Lung diseases | RESPIFIL | Rare respiratory diseases |
Rare diseases | Malformations and neurodevelopmental disorders | AnDDI-Rares | Developmental anomalies, malformation syndromes and dysmorphic syndromes without intellectual disability |
Rare diseases | Malformations and neurodevelopmental disorders | AnDDI-Rares DéfiScience |
Brain malformations |
Rare diseases | Malformations and neurodevelopmental disorders | AnDDI-Rares DéfiScience |
Intellectual disability |
Rare diseases | Malformations and neurodevelopmental disorders | AnDDI-Rares DéfiScience |
Major Psychiatric Disorders |
Rare diseases | Malformations and neurodevelopmental disorders | AnDDI-Rares NEUROSPHINX |
Dysraphisms |
Rare diseases | Malformations and neurodevelopmental disorders | CARDIOGEN | Congenital complex heart defects |
Rare diseases | Malformations and neurodevelopmental disorders | DéfiScience | Autism spectrum disorders or early and severe neurodevelopmental disorders - without intellectual disability, monogenic forms |
Rare diseases | Malformations and neurodevelopmental disorders | DéfiScience | Congenital and very early malformations and diseases of the cerebellum and brainstem |
Rare diseases | Malformations and neurodevelopmental disorders | DéfiScience | Early-onset drug-resistant epilepsies |
Rare diseases | Malformations and neurodevelopmental disorders | DéfiScience | Rare genetic obesity |
Rare diseases | Malformations and neurodevelopmental disorders | SENSGENE | Eye malformations |
Rare diseases | Malformations and neurodevelopmental disorders | SENSGENE | Genetic optic neuropathies |
Rare diseases | Malformations and neurodevelopmental disorders | TÊTECOU | Syndromic forms of rare diseases with oral and dental expression |
Rare diseases | Neurological diseases | BRAIN-TEAM | Brain calcifications |
Rare diseases | Neurological diseases | BRAIN-TEAM | Dystonia or rare abnormal movements in young subjects |
Rare diseases | Neurological diseases | BRAIN-TEAM | Hereditary ataxias of young subjects |
Rare diseases | Neurological diseases | BRAIN-TEAM | Hereditary spastic paraparesis in young subjects |
Rare diseases | Neurological diseases | BRAIN-TEAM | Leukodystrophies |
Rare diseases | Neurological diseases | BRAIN-TEAM | Neurodegeneration by intracerebral iron accumulation |
Rare diseases | Neurological diseases | BRAIN-TEAM | Neurodegenerative diseases and cognitive disorders in young and/or familial subjects |
Rare diseases | Neurological diseases | BRAIN-TEAM | Rare cerebrovascular diseases |
Rare diseases | Neuromuscular diseases | FILNEMUS | Hereditary peripheral neuropathies |
Rare diseases | Neuromuscular diseases | FILNEMUS | Myopathies |
Rare diseases | Neuromuscular diseases | FILNEMUS | Peripheral neonatal hypotonia suspicious for neuromuscular diseases |
Rare diseases | Neuromuscular diseases | FilSLAN | Amyotrophic lateral sclerosis |
Rare diseases | Sensory disorders | SENSGENE | Early deafness |
Rare diseases | Sensory disorders | SENSGENE | Hereditary retinal dystrophies |
Cancers | adult cancers | ALFA FILO GFM GRAALL |
Adult patients with acute leukemia at diagnosis, eligible for active treatment |
Cancers | adult cancers | GBMHM | Refractory or relapsed acute leukemia in adults |
Cancers | adult cancers | GBMHM LYSA |
Lymphomas of uncertain diagnosis (Page under construction) |
Cancers | adult cancers | GBMHM LYSA |
Relapsed or refractory diffuse large cell B lymphomas (Page under construction) |
Cancers | adult cancers | GFCO SCOPP |
Advanced cancers in first-line therapeutic failure |
Cancers | adult cancers | GFCO SCOPP |
Cancers of unknown primary |
Cancers | adult cancers | GFCO SCOPP |
Rare cancers |
Cancers | Pediatric cancers | SFCE | Pediatric cancers and leukemias at diagnosis |
Cancers | Pediatric cancers | SFCE | Pediatric cancers and leukemias with treatment failure |
Oncogenetic | Oncogenetic | CIGAL | Acute leukemia (AL) in adults with family history |
Oncogenetic | Oncogenetic | Groupe génétique et cancer | Cancers with extreme tumor phenotypes and no family history |
Oncogenetic | Oncogenetic | Groupe génétique et cancer | Cancers with particularly severe family history |