my CGC
< Back to results
 
Congenital anomalies of the kidney and urinary tract (CAKUT) (WES based NGS panel of 66 genes, including CNV analysis)
ANOS1, ACE, ACTG2, AGT, AGTR1, CHD7, DSTYK, EYA1, FRAS1, FREM1, FREM2, GATA3, GLI3, GREB1L, GRIP1, HAAO, HNF1B, HPSE2, ITGA8, KYNU, LRIG2, NPHP3, PAX2, PBX1, REN, RET, RPGRIP1L, RRM2B, SALL1, SIX5, TBX18, TRAP1, VPS33B, ACTA2, BICC1, BMP4, BSND, CHD1L, CH
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)

- 60

Specialties

- Rare diseases, Nephrology


CGC Reference

- 4867




Associated Tests


Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
Renal tubular dysgenesis (NGS panel of 4 genes)
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis)
Microphthalmia (NGS panel of 26 genes)
Urofacial syndrome (NGS panel of 2 genes)