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Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4

Disease code:

OMIM:616371

Associated therapeutic area(s):

Abnormality of the integument (HP:0001574)
Abnormality of the respiratory system (HP:0002086)
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.