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 FIM
MHEMO		 Familial myeloproliferative neoplasms and hereditary thrombocytosis
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

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