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X-linked mental retardation (deletion/duplication analysis, multiple genes)
ACSL4, AFF2, AGTR2, ARHGEF6, ARX, DCX, FMR1, GDI1, HUWE1, IL1RAPL1, OPHN1, PAK3, PQBP1, RPS6KA3, SLC6A8, TSPAN7
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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 |
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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, Neurology / Neuropediatrics, Obstetrics / Gynecology /PND, Pediatrics
CGC Reference
- 1204
Associated Tests
Mental retardation, X-linked (NGS panel for 89 genes)
Malformations of cortical development (lissencephaly, periventricular nodular heterotopia, polymicrogyria, megalencephaly-polymicrogyria and dysplastic megalencephaly) (NGS panel of 66 genes)
Female infertility (NGS panel of 131 gene)
Mental retardation (WES based NGS panel for 1502 genes, including CNV analysis)
Fragile X syndrome (FRAXA, FMR1 gene, conventional PCR)