< Back to results
 
Spondylometaphyseal dysplasia (NGS panel of 27 genes)
ACP5, B3GALT6, CANT1, CHST3, COL11A1, COL11A2, COL2A1, DDR2, DYM, EIF2AK3, HSPG2, IMPAD1, KIF22, MATN3, MMP13, NKX3-2, PAPSS2, PCYT1A, POP1, RAB33B, RMRP, SLC39A13, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1
Request Now


Methodology

NGS


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)

- 45

Specialties

- Rare diseases, Pediatrics


CGC Reference

- 5168




Associated Tests


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)
Vitreoretinopathy (NGS panel of 27 genes)
Stickler syndrome (NGS panel of 6 genes)
Epiphyseal dysplasia multiple (NGS panel of 7 genes)