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Kenny-Caffey syndrome, type 2 (KCS2, sequence analysis of FAM111A gene)
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Sanger sequencing

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- Rare diseases, Pediatrics

CGC Reference

- 2609

Associated Tests

Genetic syndromes with skeletal involvement (NGS panel of 38 genes)
Hypomagnesemia (NGS panel of 17 genes)
Family hypoparathyroidism (WES based NGS panel of 15 genes, including CNV analysis)