11-beta-hydroxysteroid dehydrogenase deficiency

HSD11B2

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GENE / VARIANT / LOCUS

HSD11B2

SPECIALIZATIONS

Endocrinology

Nephrology

METHODOLOGY

Sanger sequencing,Sanger sequencing

TAT (DAYS)

90 calendar days

OMIM CODE (GENE/LOCUS)

614232

OMIM CODE (FENOTYPE)

218030

RefSNP ID

ACCREDITATION

Yes

SAMPLE REQUIREMENTS

Sample type	Volume/Concentration¹	Container	Transport temperature	Sample viability (days/hours)²
DNA	≥ 100 µl [50 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	1 ml	K3/K2 EDTA - newborn	Room temp.	5
Peripheral blood	≥ 3 ml	K3/K2 EDTA	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