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Adrenal congenital hyperplasia due to 21-hydroxylase deficiency (deletion/duplication analysis on CYP21A2 gene)
CYP21A2
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Specimen Requirements
| Descriptive |
Volume / Concentration 1 |
Container |
Transport temperature |
Sample viability (days) 2 |
|---|---|---|---|---|
| DNA | ≥ 100 µL [50 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
| Fetal DNA | ≥ 20 µL [25 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
| Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
| Amniotic fluid | ≥ 5 mL | Sterile tube | Room temp. | 4 |
| Chorionic villus sampling (CVS) | ≥ 30 mg | Sterile tube + transport medium | Room temp. | 4 |
| Cell culture | 2 x T25 confluent | Sterile tube + transport medium | Room temp. | 2 |
1
When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2
Maximum shipping time to ensure sample quality
Turnaround Time (Days)
- 30
Specialties
- Rare diseases, Endocrinology, Obstetrics / Gynecology /PND, Reproductive Medicine, Metabolic Diseases
CGC Reference
- 1077
Associated Tests
Diseases of sexual development (WES based NGS panel of 46 genes)
21-hydroxylase deficiency (sequence analysis of CYP21A2 gene)
21-hydroxylase deficiency (frequent mutations and deletion/duplication analysis on CYP21A2 gene)
Hereditary endocrinopathies in infertility (sequence analysis of CYP21A2, SRD5A2, CYP19A1, ESR1, ESR2, AR genes and deletion/duplication analysis of CYP21A2 gene)