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Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

Disease code:

ORPHA:436274

Associated therapeutic area(s):

Abnormality of the cardiovascular system (HP:0001626)
Abnormality of the eye (HP:0000478)
Abnormality of the integument (HP:0001574)

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.