Back to search

Transcobalamin deficiency

Disease code:

ORPHA:859

Associated therapeutic area(s):

Abnormality of metabolism/homeostasis (HP:0001939)
Abnormality of the genitourinary system (HP:0000119)
Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of the immune system (HP:0002715)
Abnormal cellular phenotype (HP:0025354)

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.