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Immunodeficiency 94 with autoinflammation and dysmorphic facies

International Division

Monday-Friday :
8.30 am - 6.30 pm (GMT + 1)
T. : +33 4 72 80 23 85
Contact by email

Disease code:

OMIM:619750

Associated therapeutic area(s):

Abnormality of the musculoskeletal system  (HP:0033127)
Abnormality of head or neck (HP:0000152)
Abnormality of the eye (HP:0000478)
Abnormality of the ear (HP:0000598)
Abnormality of the endocrine system (HP:0000818)
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 metabolism/homeostasis (HP:0001939)
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)
Abnormality of limbs (HP:0040064)
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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

Documents to download:

Specific request form: Rare diseases
Specific request form : Exome
"Whole Exome Sequencing" brochure

Important

You have the possibility to add isolated genes in addition to your selection, directly on the test request form.