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Test Code EPIPX Epileptic Encephalopathy Panel

Clinical System Name

Epileptic Encephalopathy Panel

Synonyms

Epiplex

Description

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. The panel uses next-generation sequencing to detect most mutations in the genes listed below. The assay completely sequences all exons of these genes, detects large deletions and duplications, and has the potential to detect mosaicism.

 

 

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, ZEB2

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow Top/ACD A or B

Preferred Vol: 10 mL

Minimum Vol: 5 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 cup or tube

Preferred Vol: 200-300mg

Minimum Vol: 50mg

 

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: No

Aliquot: No

Temp: RT

Storage location: Affix large Cerner labels to tubes and place in room temp send-outs rack. Store extra labels and copy of requisition in the clear plastic box attached to CPA refrigerator. Alert Send-outs team.

 

Off-site collection: Send whole blood refrigerated.

Stability

 

Specimen Type Temperature Time
Whole blood Room temp  
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA from blood or cultured fibroblasts Room temp 3-4 d
Extracted DNA from blood or cultured fibroblasts Refrigerated 1 y
Extracted DNA from blood or cultured fibroblasts Frozen Indefinitely
Fresh frozen tissue Frozen  
Cultured cells Room temp 3 days

 

Availability

STAT TAT
No 8 weeks (Turnaround time may be longer for samples other than blood and DNA.)

 

Performing Laboratory

University of Washington Medical Center

Department

UW Medical Center

Laboratory Medicine – Genetics Lab

1959 NE Pacific St, Room NW220

SEATTLE, WA 98195-7110

(206) 598-6429

 

 

Reference Range

Interpretive report provided.

Methodology

Method: Next-generation sequencing

Analytical Volume:

Limitations:

CPT Codes

81403x1, 81404x4, 81405x9, 81406x10, 81407x3, 81479x1, 81302x1, 81321x1

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 M thru F with the UW courier. Keep a copy of the Batch Sheet for our records.