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Neutropenia, severe congenital, 6, autosomal recessive

Disease code:

OMIM:616022

Associated therapeutic area(s):

Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of the ear (HP:0000598)
Growth abnormality (HP:0001507)
Abnormality of the respiratory system (HP:0002086)
Abnormality of the immune system (HP:0002715)

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.