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Heterotopia, periventricular, X-linked dominant

Disease code:

OMIM:300049

Associated therapeutic area(s):

Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of the eye (HP:0000478)
Abnormality of the nervous system (HP:0000707)
Abnormality of the cardiovascular system (HP:0001626)
Abnormality of the immune system (HP:0002715)
Abnormality of the musculoskeletal system  (HP:0033127)
Abnormality of limbs (HP:0040064)
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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.