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Panel + CNV
Exome
Exome + CNV
Ataxia-pancytopenia syndrome
Division Internationale
Lundi-Vendredi :
De 8h30 à 18h30
Tél : +33 4 72 80 23 85
Contact par email
De 8h30 à 18h30
Tél : +33 4 72 80 23 85
Contact par email
Code pathologie:
ORPHA:2585Aire(s) thérapeutique(s) associée(s) :
Abnormal cellular phenotype (HP:0025354)
Abnormality of head or neck (HP:0000152)
Abnormality of the eye (HP:0000478)
Abnormality of the nervous system (HP:0000707)
Abnormality of the cardiovascular system (HP:0001626)
Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of metabolism/homeostasis (HP:0001939)
Abnormality of the respiratory system (HP:0002086)
Neoplasm (HP:0002664)
Abnormality of the immune system (HP:0002715)
Abnormality of the digestive system (HP:0025031)
Abnormality of the musculoskeletal system (HP:0033127)
Abnormality of limbs (HP:0040064)
Voir plusAbnormality of head or neck (HP:0000152)
Abnormality of the eye (HP:0000478)
Abnormality of the nervous system (HP:0000707)
Abnormality of the cardiovascular system (HP:0001626)
Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of metabolism/homeostasis (HP:0001939)
Abnormality of the respiratory system (HP:0002086)
Neoplasm (HP:0002664)
Abnormality of the immune system (HP:0002715)
Abnormality of the digestive system (HP:0025031)
Abnormality of the musculoskeletal system (HP:0033127)
Abnormality of limbs (HP:0040064)
Pré-analytique :
5 ml de sang total ou ADN extraitTempérature ambiante
Délai :
4 semainesOptions disponibles :
PanelPanel + CNV
Exome
Exome + CNV
Document(s) associé(s) :
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