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Room temperature
Panel + CNV
Exome
Exome + CNV
Specific request form : Exome
"Whole Exome Sequencing" brochure
Ichthyosis hystrix of Curth-Macklin
International Division
Monday-Friday :
8.30 am - 6.30 pm (GMT + 1)
T. : +33 4 72 80 23 85
Contact by email
8.30 am - 6.30 pm (GMT + 1)
T. : +33 4 72 80 23 85
Contact by email
Disease code:
ORPHA:79503Associated therapeutic area(s):
Abnormality of the immune system (HP:0002715)
Abnormality of the integument (HP:0001574)
Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of the musculoskeletal system (HP:0033127)
Abnormality of limbs (HP:0040064)
Abnormality of the integument (HP:0001574)
Abnormality of blood and blood-forming tissues (HP:0001871)
Abnormality of the musculoskeletal system (HP:0033127)
Abnormality of limbs (HP:0040064)
Prenalytics:
5 mL whole blood or DNA sampleRoom temperature
Turnaround time:
4 semainesOptions available :
PanelPanel + CNV
Exome
Exome + CNV
Documents to download:
Specific request form: Rare diseasesSpecific 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.
