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HelpTest Code LAB3005 Epileptic Encephalopathy Panel
Clinical System Name
Epileptic Encephalopathy Panel
Synonyms
Epiplex
Description
Genes in panel: ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CYFIP1, DEPDC5, DNM1, EEF1A2, FOXG1, GABRA1, GABRB1, GABRB3, GABRG2, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNH1, KCNH5, KCNQ2, KCNQ3, KCNT1, LGI1, MBD5, MECP2, MEF2C, MTOR, NDE1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PTEN, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC1A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SPTAN1, STX1B, STXBP1, SYN1, SYNGAP1, TBC1D24, TCF4, TSC1, TSC2, UBE3A, WDR45, WWOX, and ZEB2.
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender Top/EDTA, Yellow Top/ACD A or B
Preferred Vol: 10.0 mL
Minimum Vol: 5.0 mL
Specimen: DNA
Container(s): Sterile Plastic Tube
Preferred Vol: 6 micrograms, concentration: at least 25 nanograms/microliter
Minimum Vol: 3 micrograms
Specimen: Fresh Frozen Tissue
Container(s): Sterile Screw-Capped Container or Sterile Screw-Capped Tube
Preferred Vol: 200-300 mg
Minimum Vol: 50 mg
Specimen: Cultured cells
Acceptable: Fibroblasts
Container(s): T-25 flasks
Preferred Vol: 2 flasks
Buccal, saliva, and prenatal specimens are not accepted for this test at this time.
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: 2 - 4 C
Storage Location: Affix large Cerner labels to tubes and place in the CPA 3 refrigerator, Send Outs rack. Store extra labels and copy of requisition in the clear plastic box attached to CPA refrigerator.
Off-site Collection: Send whole blood refrigerated.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room Temp | 3 d |
| Refrigerated | 7 d | |
| Frozen | Unacceptable | |
| Extracted DNA from Blood or Cultured Fibroblasts | Room temp | 3 - 4 d |
| Refrigerated | 1 y | |
| Frozen | Indefinitely | |
| Fresh Frozen Tissue | Frozen | |
| Cultured Cells | Room Temp | 3 d |
Availability
| STAT | TAT |
|---|---|
| N | 4 weeks (Turnaround time may be longer for samples other than blood and DNA.) |
Performing Laboratory
University of Washington Medical Center
Department of Laboratory Medicine
Genetics Lab
1959 NE Pacific St, NW220
Seattle, WA 98195
Phone Number: (206) 520-4600
Department
Department: Send Outs
Phone Number: (206) 520-4600
Methodology
Next-generation sequencing
Reference Range
Interpretive report provided.
Special Instructions
Clinical Utility
This panel is useful for the evaluation of patients with epilepsy that is suspected to have an underlying genetic cause. This includes epileptic encephalopathy (EE) syndromes as well as other genetic epilepsies, including benign familial neonatal seizures, epilepsy-aphasia syndromes, and pyridoxal phosphate and pyridoxine-dependent epilepsies.
Indications for testing include:
- Molecular genetic confirmation when one of the above genetic epilepsies is suspected
Send Out Instructions
| Reference Test Name: | Epileptic Encephalopathy Panel |
| Reference Test Number: | EPIPX |
| Instructions: | Ship at room temperature, avoid freezing sample. Send out Monday through Friday with the UW courier. |