Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA and saliva are also acceptable.
Specimen Preparation
Please provide detailed clinical history and features. For more information contact the lab at 6-1447 or by sending an email to DGDGeneticCounselor@chop.edu.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
2-3 mL of blood or 3 ug of DNA with a concentration of at least 50 ng/ul
Minimum Required
1 mL of whole blood
Phlebotomy Draw
Yes
Clinical Features
Epilepsies are a group of common heterogeneous neurological conditions generally characterized by recurrent, unprovoked seizures [Fisher 2014, PMID: 24730690; Ottman 2012, PMID: 22787608]. Seizure disorders are phenotypically diverse with variability in age of onset, seizure type, and the absence or presence of additional clinical features [Helbig 2008, PMID: 18275925; Ottman 2010, PMID: 20100225; Lemke 2015, PMID: 26060911]. Although a significant percentage of epilepsy is thought to have a genetic component, the exact proportion of cases with a monogenic cause is unknown [Thomas 2014, PMID: 24733163; Helbig 2016, PMID: 27226047].
Performing Lab
Division of Genomic Diagnostics
Performed
Monday thru Friday 9:00am-4:00pm
Reported
42 days
Detection Rate
The clinical sensitivity for comprehensive sequence and copy number analysis is not yet well-established and is dependent on the panel's gene content and the patient's clinical features.
Utility
The clinical utility of the assay is to support a clinical diagnosis of epilepsy, facilitate genetic counseling, and assess the risk to other first-degree relatives, as well as at-risk family members.
Genomic DNA is extracted from patient tissue following standard DNA extraction protocols. Whole genome sequencing is performed on the Illumina NovaSeq 6000 platform using the Illumina DNA PCR-Free Library Prep with 150bp paired-end reads. Mapping and analysis is based on the GRCh38 reference sequence. Sequencing data is processed using the Dragen pipeline (Illumina) to call both sequence and copy number variants.
Please note that the CPT codes for this test are changing effective 1/1/21.
For orders received by 12/31/20: 81406 (x10), 81407 (x2), 81405 (x6), 81404 (x5), 81403, 81302, 81479, 81185, 81189
For orders received on or after 1/1/21: 81419
Collection
Collect
Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA and saliva are also acceptable.
Specimen Preparation
Please provide detailed clinical history and features. For more information contact the lab at 6-1447 or by sending an email to DGDGeneticCounselor@chop.edu.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
2-3 mL of blood or 3 ug of DNA with a concentration of at least 50 ng/ul
Minimum Required
1 mL of whole blood
Phlebotomy Draw
Yes
Ordering
Clinical Features
Epilepsies are a group of common heterogeneous neurological conditions generally characterized by recurrent, unprovoked seizures [Fisher 2014, PMID: 24730690; Ottman 2012, PMID: 22787608]. Seizure disorders are phenotypically diverse with variability in age of onset, seizure type, and the absence or presence of additional clinical features [Helbig 2008, PMID: 18275925; Ottman 2010, PMID: 20100225; Lemke 2015, PMID: 26060911]. Although a significant percentage of epilepsy is thought to have a genetic component, the exact proportion of cases with a monogenic cause is unknown [Thomas 2014, PMID: 24733163; Helbig 2016, PMID: 27226047].
Performing Lab
Division of Genomic Diagnostics
Performed
Monday thru Friday 9:00am-4:00pm
Reported
42 days
Detection Rate
The clinical sensitivity for comprehensive sequence and copy number analysis is not yet well-established and is dependent on the panel's gene content and the patient's clinical features.
Utility
The clinical utility of the assay is to support a clinical diagnosis of epilepsy, facilitate genetic counseling, and assess the risk to other first-degree relatives, as well as at-risk family members.
Genomic DNA is extracted from patient tissue following standard DNA extraction protocols. Whole genome sequencing is performed on the Illumina NovaSeq 6000 platform using the Illumina DNA PCR-Free Library Prep with 150bp paired-end reads. Mapping and analysis is based on the GRCh38 reference sequence. Sequencing data is processed using the Dragen pipeline (Illumina) to call both sequence and copy number variants.
