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Achondroplasia | Hypochondroplasia | Thanatophoric dysplasia types I & II | SADDAN dysplasia | Crouzon syndrome with acanthosis nigricans | CATSHL syndrome | LADD syndrome (sequence analysis of FGFR3 gene)
FGFR3
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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
- Dermatology, Rare diseases, Neurology / Neuropediatrics, Pulmonology/Pneumology, Dysmorphology
CGC Reference
- 1179
Associated Tests
Achondroplasia (sequence analysis of exon 9 of FGFR3 gene)
Muenke syndrome (Pro250Arg mutation on FGFR3 gene)
Hypochondroplasia (sequence analysis of exons 3, 7, 8, 9, 12 and 14 of FGFR3 gene)
Craniofacial anomalies (deletion/duplication analysis on FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes)
Craniosynostosis (NGS panel for 5 genes, PND)