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Hemifacial microsomia

Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

13

Test / Mutation List

CHD7, DHODH, EFTUD2, EYA1, GNAI3, PLCB4, POLR1C, POLR1D, SALL1, SF3B4, SIX1, SIX5, TCOF1

TAT

3 to 4 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated

For other samples types, please contact the laboratory.