Back to search
Room temperature
Panel + CNV
Exome
Exome + CNV
Specific request form : Exome
"Whole Exome Sequencing" brochure
Martinez-Frias syndrome
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:
OMIM:601346Associated therapeutic area(s):
Abnormality of the genitourinary system (HP:0000119)
Growth abnormality (HP:0001507)
Abnormality of the respiratory system (HP:0002086)
Abnormality of the digestive system (HP:0025031)
Growth abnormality (HP:0001507)
Abnormality of the respiratory system (HP:0002086)
Abnormality of the digestive system (HP:0025031)
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.
