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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)