NGS analysis - Bardet-Biedl syndrome

Request more informations
GENE / VARIANT / LOCUS
ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP19, CPE, IFT172, IFT27, LZTF1, MKKS, MKS1, PNPLA6, SCAPER, SDCCAG8, TRIM32, TTC8, WDPCP
SPECIALIZATIONS
-
METHODOLOGY
TAT (DAYS)
365 calendar days
OMIM CODE (GENE/LOCUS)
OMIM CODE (FENOTYPE)
RefSNP ID
ACCREDITATION
No
SAMPLE REQUIREMENTS
Sample type Volume/Concentration1 Container Transport temperature Sample viability (days/hours)2
Peripheral blood ≥ 3 ml K3/K2 EDTA Room temp. 5
Peripheral blood 1 ml K3/K2 EDTA - newborn Room temp. 5
Peripheral blood ≥ 3 ml K3/K2 EDTA Room temp. 5
Peripheral blood 1 ml K3/K2 EDTA - newborn Room temp. 5

1 If it is not possible to collect the minimum volume for the test, please contact Unilabs Genetics

2 Maximum shipping time to ensure sample quality

|
© UNILABS SLOVENSKO 2021