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T-B+ severe combined immunodeficiency due to gamma chain deficiency

Disease code:

ORPHA:276

Associated therapeutic area(s):

Abnormality of metabolism/homeostasis (HP:0001939)
Growth abnormality (HP:0001507)
Abnormality of the integument (HP:0001574)
Abnormality of the cardiovascular system (HP:0001626)
Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of the respiratory system (HP:0002086)
Neoplasm (HP:0002664)
Abnormality of the immune system (HP:0002715)
Abnormality of the digestive system (HP:0025031)
Abnormal cellular phenotype (HP:0025354)
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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.