Feedback
Multiple Epiphyseal Dysplasia Sequencing, 6 Genes
2008837
Ordering Recommendation

Acceptable test for individuals with clinical phenotype of multiple epiphyseal dysplasia. Preferred test is Multiple Epiphyseal Dysplasia Panel, Sequencing and Deletion/Duplication, 6 Genes (2008840).

Mnemonic
MED SEQ
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-12 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required. 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
Submit the Patient History Form for Multiple Epiphyseal Dysplasia with the Electronic Packing List. 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Patient History forms are available online at www.aruplab.com.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81479
Components
Component Test Code*Component Chart NameLOINC
2008838Mult Epiphyseal Dysplasia Seq Spec
2008839Mult Epiphyseal Dysplasia Seq Interp
* 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
  • achondrogenesis type Ib
  • diastrophic dysplasia
  • atelosteogenesis type II
  • COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
  • pseudoachondroplasia