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3-Hydroxyacyl-Coa dehydrogenase deficiency

Disease code:

OMIM:231530

Associated therapeutic area(s):

Growth abnormality (HP:0001507)
Abnormality of the genitourinary system (HP:0000119)
Abnormality of the nervous system (HP:0000707)
Abnormality of the cardiovascular system (HP:0001626)
Abnormality of metabolism/homeostasis (HP:0001939)
Abnormality of the digestive system (HP:0025031)
Abnormal cellular phenotype (HP:0025354)
Abnormality of the musculoskeletal system  (HP:0033127)
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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.