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