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Joubert syndrome type 2 (JBTS2, sequence analysis of TMEM216 gene)
TMEM216
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Methodology

Sanger sequencing


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

- 3583




Associated Tests


Meckel syndrome 2 (sequence analysis of TMEM216 gene)
Ashkenazi panel (NGS panel of 26 genes)
Joubert syndrome (WES based NGS panel of 35 genes, including CNV analysis)
Meckel syndrome (NGS panel of 13 genes)