< Back to results
 
Chondrodysplasia with joint dislocations, gPAPP type (sequence analysis of IMPAD1 gene)
IMPAD1
Request Now


Methodology

Sanger sequencing


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
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

Specialties

- 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)