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Methylmalonic acidemia with homocystinuria, type cblD

Disease code:

ORPHA:79283

Associated therapeutic area(s):

Abnormality of the digestive system (HP:0025031)
Abnormality of the nervous system (HP:0000707)
Growth abnormality (HP:0001507)
Abnormality of the integument (HP:0001574)
Abnormality of blood and blood-forming tissues (HP:0001871)
Constitutional symptom (HP:0025142)
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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.