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X-linked skeletal dysplasia-intellectual disability syndrome

Disease code:

ORPHA:1436

Associated therapeutic area(s):

Abnormality of the endocrine system (HP:0000818)
Growth abnormality (HP:0001507)
Abnormality of metabolism/homeostasis (HP:0001939)
Abnormality of the digestive system (HP:0025031)
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.