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Treacher Collins syndrome: genes TCOF1, POLR1C, POLR1D

Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

3

Test / Mutation List

TCOF1, POLR1C, POLR1D

TAT

2 to 3 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.