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Congenital liver fibrosis (NGS panel of 53 genes)
AHI1, ANKS6, ARL6, ARL13B, B9D1, B9D2, BAAT, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C5ORF42, CC2D2A, CEP41, CEP164, CEP290, DCDC2, GLIS2, INPP5E, INVS, IQCB1, KIF7, LIPA, MKKS, MKS1, NEK8, NPHP1, NPHP3, NPHP4, NR1H4, OFD1, PKD1, PKD2, PKHD1, RP
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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)

- 45

Specialties

- Rare diseases


CGC Reference

- 5003




Associated Tests


Polycystic kidney disease and related diseases (WES based NGS panel of 72 genes, including CNV analysis)
Ciliopathies (WES based NGS panel of 202 genes, including CNV analysis)
Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
Joubert syndrome (WES based NGS panel of 35 genes, including CNV analysis)
Bardet-Biedl syndrome (WES based NGS panel of 21 genes, including CNV analysis)