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Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone

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:223500

Associated therapeutic area(s):

Abnormality of the ear (HP:0000598)
Abnormality of the nervous system (HP:0000707)
Growth abnormality (HP:0001507)
Abnormality of metabolism/homeostasis (HP:0001939)

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.