Dyskeratosis Congenita, X-linked (DKC1) Sequencing
2006228
Ordering Recommendation
Refer to Additional Technical Information document.
Mnemonic
DKC1 FGS
Methodology
Sequencing
Performed
Varies
Reported
7-8 weeks  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA). Also acceptable: Pink (K2EDTA).  
Specimen Preparation
Transport 5 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Room temperature. Also acceptable: Refrigerated. Protect from extreme temperatures.  
Unacceptable Conditions
  
Remarks
Clinical indication or reason for testing is required.  
Stability
Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
 
Note
 
CPT Code(s)
81479
Components
Component Test Code*Component Chart Name
2006229Dyskeratosis Congenita, XL (DKC1) Seq
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • DKC1 Gene Sequencing
  • Dyskeratosis congenita, X-linked, DKCX
  • Dyskerin gene, DKC1, Xq28
  • Hoyeraal-Hreidarsson Syndrome, HHS
  • Zinsser-Cole-Engman Syndrome

Performed at GeneDx