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Joubert syndrome (WES based NGS panel of 35 genes, including CNV analysis)
AHI1, ARL13B, ARMC9, B9D1, B9D2, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1, CSPP1, EXOC8, INPP5E, KATNIP, KIAA0586, KIF7, MKS1, NPHP1, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21
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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, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5151




Associated Tests


Congenital liver fibrosis (NGS panel of 53 genes)
Meckel syndrome (NGS panel of 13 genes)
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)