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Usher syndrome type 2A | Retinitis pigmentosa 39 (deletion/duplication analysis on USH2A gene)
USH2A
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Methodology
Deletion/duplication analysis by MLPA
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
CPT Codes
- 81479
Specialties
- Rare diseases, Ophthalmology, Otorhinolaryngology, Pediatrics
CGC Reference
- 2250
Associated Tests
Usher syndrome type 2A | Retinitis pigmentosa 39 (sequence analysis of USH2A gene)
Síndrome de Usher (WES based NGS panel of 13 genes, including CNV analysis)