Back to search

Encephalopathy, progressive, with amyotrophy and optic atrophy

Disease code:

OMIM:617207

Associated therapeutic area(s):

Growth abnormality (HP:0001507)
Abnormality of the eye (HP:0000478)
Abnormality of the nervous system (HP:0000707)
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.