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Chondrodysplasia with joint dislocations, gPAPP type (sequence analysis of IMPAD1 gene)
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Sanger sequencing

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
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)

- 60


- Rare diseases, Pediatrics, Dysmorphology

CGC Reference

- 3600

Associated Tests

Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis)
Spondylometaphyseal dysplasia (NGS panel of 27 genes)
Clefting (WES based NGS panel of 231 genes, including CNV analysis)
Skeletal Dysplasia (WES based NGS panel of 530 genes, including CNV analysis, including CNV analysis)
Spondylometaphyseal dysplasia (WES based NGS panel of 27 genes, including CNV analysis)