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Température ambiante
Panel + CNV
Exome
Exome + CNV
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
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:177904Aire(s) thérapeutique(s) associée(s) :
Abnormality of the integument (HP:0001574)
Abnormality of the genitourinary system (HP:0000119)
Abnormality of head or neck (HP:0000152)
Abnormality of the eye (HP:0000478)
Abnormality of the nervous system (HP:0000707)
Abnormality of the endocrine system (HP:0000818)
Abnormality of prenatal development or birth (HP:0001197)
Growth abnormality (HP:0001507)
Abnormality of the voice (HP:0001608)
Abnormality of metabolism/homeostasis (HP:0001939)
Abnormality of the respiratory system (HP:0002086)
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 the genitourinary system (HP:0000119)
Abnormality of head or neck (HP:0000152)
Abnormality of the eye (HP:0000478)
Abnormality of the nervous system (HP:0000707)
Abnormality of the endocrine system (HP:0000818)
Abnormality of prenatal development or birth (HP:0001197)
Growth abnormality (HP:0001507)
Abnormality of the voice (HP:0001608)
Abnormality of metabolism/homeostasis (HP:0001939)
Abnormality of the respiratory system (HP:0002086)
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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