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Ehlers-Danlos syndrome, progeroid type (sequence analysis of B3GALT6 gene)
B3GALT6
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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, Neurology / Neuropediatrics, Pediatrics, Dysmorphology


CGC Reference

- 4638




Associated Tests


Spondylometaphyseal dysplasia (NGS panel of 27 genes)
Osteogenesis imperfecta (WES based NGS panel of 26 genes, including CNV analysis)
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)
Clefting (WES based NGS panel of 231 genes, including CNV analysis)