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Epiphyseal dysplasia, multiple, 3, with or without myopathy

Disease code:

OMIM:600969

Associated therapeutic area(s):

Growth abnormality (HP:0001507)
Abnormality of metabolism/homeostasis (HP:0001939)
Constitutional symptom (HP:0025142)
Abnormality of the musculoskeletal system  (HP:0033127)
Abnormality of limbs (HP:0040064)

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.