Achondroplasia

FGFR3: c.1138G˃A/C

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GENE / VARIANT / LOCUS

FGFR3: c.1138G˃A/C

SPECIALIZATIONS

Dysmorphology

Obstetrics / gynecology /pnd

Pediatrics

Obstetrics / gynecology /pnd

METHODOLOGY

Sanger sequencing,Sanger sequencing

TAT (DAYS)

90 calendar days

OMIM CODE (GENE/LOCUS)

134934

OMIM CODE (FENOTYPE)

100800

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
Fetal DNA	≥ 30 µl [25 ng/µl]	Eppendorf Safe-lock sterile tube	Room temp.	n/a
DNA	≥ 100 µl [50 ng/µl]	Eppendorf Safe-lock sterile tube	Room temp.	n/a
Peripheral blood	1 ml	K3/K2 EDTA - newborn	Room temp.	5
Peripheral blood	≥ 3 ml	K3/K2 EDTA	Room temp.	5
Peripheral blood	≥ 3 ml	K3/K2 EDTA	Room temp.	5
Peripheral blood	1 ml	K3/K2 EDTA - newborn	Room temp.	5
Amniotic fluid	≥ 10 ml	Sterile tube	Room temp.	4
Buccal swab	2 buccal swabs	Swab	Room temp.	2

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