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Klippel-Feil syndrome (NGS panel of 5 genes)
GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
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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, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5042




Associated Tests


Genetic syndromes with skeletal involvement (NGS panel of 38 genes)
Microphthalmia (NGS panel of 26 genes)
Klippel-Feil syndrome 1 (sequence analysis of GDF6 gene)
Klippel-Feil syndrome type 3, AD (sequence analysis of GDF3 gene)
Klippel-Feil syndrome 2 (sequence analysis of MEOX1 gene)