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Temple syndrome due to paternal 14q32.2 hypomethylation

Disease code:

ORPHA:254531

Associated therapeutic area(s):

Abnormality of the nervous system (HP:0000707)
Abnormality of head or neck (HP:0000152)
Abnormality of the ear (HP:0000598)
Abnormality of the endocrine system (HP:0000818)
Growth abnormality (HP:0001507)
Abnormality of the immune system (HP:0002715)
Abnormality of the digestive system (HP:0025031)
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.