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Klippel-Feil syndrome 2 (sequence analysis of MEOX1 gene)
MEOX1
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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

CPT Codes

- 81479

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 2224




Associated Tests


Genetic syndromes with skeletal involvement (NGS panel of 38 genes)
Klippel-Feil syndrome (NGS panel of 5 genes)
Skeletal Dysplasia (WES based NGS panel of 531 genes, including CNV analysis, including CNV analysis)
Clefting (WES based NGS panel of 231 genes, including CNV analysis)
Skeletal Dysplasia (WES based NGS panel of 530 genes, including CNV analysis, including CNV analysis)