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Bamforth-Lazarus syndrome

Disease code:

ORPHA:1226

Associated therapeutic area(s):

Abnormality of the musculoskeletal system  (HP:0033127)
Abnormality of head or neck (HP:0000152)
Abnormality of the nervous system (HP:0000707)
Abnormality of the endocrine system (HP:0000818)
Abnormality of prenatal development or birth (HP:0001197)
Abnormality of the integument (HP:0001574)
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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.