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Osteogenesis imperfecta (WES based NGS panel of 26 genes, including CNV analysis)
ALPL, B3GALT6, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, LRP5, NOTCH2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, TRPV6, WNT1.
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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)

- 60

Specialties

- Rare diseases, Pediatrics


CGC Reference

- 5446




Associated Tests


Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)
Skeletal dysplasia (NGS panel for 6 genes, PND)
Primary Hypertrophic Osteoarthropathy (NGS panel of 22 genes)
Osteogenesis imperfecta type VII (sequence analysis of CRTAP gene)
Alagille syndrome 2 (sequence analysis of NOTCH2 gene)