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Congenital muscular dystrophy with intellectual disability and severe epilepsy

Disease code:

ORPHA:329178

Associated therapeutic area(s):

Growth abnormality (HP:0001507)
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 prenatal development or birth (HP:0001197)
Abnormality of the integument (HP:0001574)
Abnormality of blood and blood-forming tissues (HP:0001871)
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)
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Prenalytics:

5 mL whole blood or DNA sample
Room temperature

Turnaround time:

4 semaines

Options available :

Panel
Panel + CNV
Exome
Exome + CNV

Important

You have the possibility to add isolated genes in addition to your selection, directly on the test request form.