Back to search

Combined oxidative phosphorylation deficiency 18

Disease code:

OMIM:615578

Associated therapeutic area(s):

Abnormality of the musculoskeletal system  (HP:0033127)
Abnormality of the eye (HP:0000478)
Abnormality of the nervous system (HP:0000707)
Growth abnormality (HP:0001507)
Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of metabolism/homeostasis (HP:0001939)
See more

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.