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