Progressive Myoclonic Epilepsy Panel, Sequence Analysis and Exon-Level Deletion/Duplication, 17 Genes
2007533
Ordering Recommendation
Refer to Additional Technical Information document.
Mnemonic
PROG EPIL
Methodology
Massive Parallel Sequencing/Exonic Oligonucleotide-based CGH Array
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.
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
Test includes: CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, DNAJC5, EPM2A, FOLR1, GOSR2, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1 (CLN2)
CPT Code(s)
81403 (NHLRC1); 81404 x 2 (CSTB, EPM2A); 81479 x2
Components
Component Test Code*Component Chart Name
2007534Progressive Myclonic Epilepsy Panel
2010873Ordering Physician Name
2010874Ordering Physician Phone Number
2010886EER Progressive Myclonic Epilepsy Panel
* 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
 

Performed at GeneDx