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Androgen insensitivity syndrome (deletion/duplication analysis on AR gene)
AR
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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, Pediatrics, Reproductive Medicine
CGC Reference
- 3621
Associated Tests
Kennedy disease (SBMA, CAG expansion on AR gene)
Androgen insensitivity syndrome (sequence analysis of AR gene)
Diseases of sexual development (WES based NGS panel of 46 genes)
Endocrinopathies associated with reproduction (NGS panel of 4 genes)
Female infertility (NGS panel of 132 gene)