Collect whole blood in a purple top (EDTA) tube (preferred). Also accepted: saliva* and DNA extracted from a CLIA-certified lab (5µg at a minimum concentration of 85ng/µl).
*To request saliva collection kits for CHOP patients/family members, please place an Epic order for DGD Mail Specimen Collection Kit to Patient (Status: Specimen in Lab, Specimen Type: Saliva). In order comments, specify kit will be picked up by clinical team member.
NOTE: Due to the increased potential for quality/quantity issues of DNA extracted from saliva, blood is still the preferred sample type when feasible, particularly for urgent testing.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, samples 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: ?Please contact the Clinical Lab Outreach team before sending a sample for this test:ClinicalLabOutreach@chop.edu.
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 µg of DNA with a concentration of at least 50 ng/µl
Minimum Required
1 mL of whole blood
Phlebotomy Draw
Yes
Ordering Recommendations
Ordering of this test is restricted to biological parents of fetal patients and infants < 13 months of age in an inpatient unit of the Children’s Hospital of Philadelphia.?
For External Clients:?Please contact the Clinical Lab Outreach team before sending a sample for this test:ClinicalLabOutreach@chop.edu.
Use Rapid Targeted Analysis of Family Member for family members undergoing evaluation to directly assist in interpretation of the patient's sequencing data. Follow link for information about?Rapid Targeted Analysis of Genome Infant (rTAG-I).
Performing Lab
Division of Genomic Diagnostics
Performed
Monday-Friday 9:00am - 4:00pm
Methodology
Genomic DNA is extracted from patient tissue following standard DNA extraction protocols. Whole genome sequencing is performed on the Illumina NovaSeq X Plus platform using the Illumina DNA PCR-Free Library Prep with 150bp paired-end reads. Mapping and analysis are based on the GRCh38 reference sequence. Sequencing data is processed using the Dragen pipeline (Illumina) to call sequence variants and copy number variants.?
Synonyms
rTAG, RGFAM, Baby Eagle, Rapid Targeted Anaylsis of Genome, NICU sequencing, family member, NICU
LIS Mnemonic
RGFAM
Available STAT
No
Collection
Collect
Collect whole blood in a purple top (EDTA) tube (preferred). Also accepted: saliva* and DNA extracted from a CLIA-certified lab (5µg at a minimum concentration of 85ng/µl).
*To request saliva collection kits for CHOP patients/family members, please place an Epic order for DGD Mail Specimen Collection Kit to Patient (Status: Specimen in Lab, Specimen Type: Saliva). In order comments, specify kit will be picked up by clinical team member.
NOTE: Due to the increased potential for quality/quantity issues of DNA extracted from saliva, blood is still the preferred sample type when feasible, particularly for urgent testing.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, samples 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: ?Please contact the Clinical Lab Outreach team before sending a sample for this test:ClinicalLabOutreach@chop.edu.
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 µg of DNA with a concentration of at least 50 ng/µl
Minimum Required
1 mL of whole blood
Phlebotomy Draw
Yes
Ordering
Ordering Recommendations
Ordering of this test is restricted to biological parents of fetal patients and infants < 13 months of age in an inpatient unit of the Children’s Hospital of Philadelphia.?
For External Clients:?Please contact the Clinical Lab Outreach team before sending a sample for this test:ClinicalLabOutreach@chop.edu.
Use Rapid Targeted Analysis of Family Member for family members undergoing evaluation to directly assist in interpretation of the patient's sequencing data. Follow link for information about?Rapid Targeted Analysis of Genome Infant (rTAG-I).
Performing Lab
Division of Genomic Diagnostics
Performed
Monday-Friday 9:00am - 4:00pm
Methodology
Genomic DNA is extracted from patient tissue following standard DNA extraction protocols. Whole genome sequencing is performed on the Illumina NovaSeq X Plus platform using the Illumina DNA PCR-Free Library Prep with 150bp paired-end reads. Mapping and analysis are based on the GRCh38 reference sequence. Sequencing data is processed using the Dragen pipeline (Illumina) to call sequence variants and copy number variants.?
Synonyms
rTAG, RGFAM, Baby Eagle, Rapid Targeted Anaylsis of Genome, NICU sequencing, family member, NICU
