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IGF1 deficiency (deletion/duplication analysis on IGF1 gene)
IGF1
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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
Specialties
- Rare diseases, Pediatrics, Metabolic Diseases, Dysmorphology
CGC Reference
- 1241
Associated Tests
Growth retardation due to IGF1 deficiency (sequence analysis of IGF1 gene)
Syndromes with short stature (WES based NGS panel of 100 genes, including CNV analysis)
Growth retardation due to IGF1 resistance (sequence analysis of IGF1R gene)