< Back to results
 
Genetic syndromes with skeletal involvement (NGS panel of 38 genes)
ATR, CCDC8, CDC6, CDKN1C, CDT1, CENPJ, CEP152, CEP63, CREBBP, CUL7, DNA2, EP300, ESCO2, FAM111A, FAM58A, FGF10, FGF9, FGFR2, FGFR3, GDF3, GDF6, LARP7, LMX1B, MEOX1, MGP, NIN, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RECQL4, SALL1, SALL4, SF3B4, SH3PXD2B
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, Dysmorphology


CGC Reference

- 4804




Associated Tests


Skeletal Dysplasia (WES based NGS panel of 531 genes, including CNV analysis, including CNV analysis)
Skeletal Dysplasia (WES based NGS panel of 530 genes, including CNV analysis, including CNV analysis)
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis)
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis)
Genetic deafness (WES based NGS panel of 226 genes, including CNV analysis)