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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)