Achondroplasia, hypochondroplasia

Request more informations
GENE / VARIANT / LOCUS
FGFR3: exons 7,9,12,14
SPECIALIZATIONS
Dysmorphology
Obstetrics / gynecology /pnd
Pediatrics
TAT (DAYS)
90 calendar days
OMIM CODE (GENE/LOCUS)
134934
OMIM CODE (FENOTYPE)
100800, 146000
RefSNP ID
ACCREDITATION
Yes
SAMPLE REQUIREMENTS
Sample type Volume/Concentration1 Container Transport temperature Sample viability (days/hours)2
Amniotic fluid ≥ 10 ml Sterile tube Room temp. 4
Buccal swab 2 buccal swabs Swab Room temp. 2
DNA ≥ 100 µl [50 ng/µl] Eppendorf Safe-lock sterile tube Room temp. n/a
Fetal DNA ≥ 30 µl [25 ng/µl] Eppendorf Safe-lock sterile tube Room temp. n/a
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