Blood – 2-3 mL in an EDTA (purple top) tube.
Bone Marrow - 2-3 mL in an EDTA (purple top) tube.
DNA – 3 ug of DNA with a concentration of at least 50 ng/ul
Saliva – please contact the lab regarding the availability of collection kits by emailing DGDGeneticCounselor@chop.edu.
Skin biopsy or two T25 flasks of cultured fibroblasts from skin*
*If the individual being tested has suspected or confirmed myelodysplasia or leukemia/lymphoma, or if the individual is the recipient of a donor (allogenic) bone marrow transplant, cultured fibroblasts from skin are the preferred specimen to assess for constitutional genetic variants.
Specimen Preparation
Please provide relevant clinical and family history. 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 blood 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
Blood – 2-3 mL in an EDTA (purple top) tube.
Bone Marrow - 2-3 mL in an EDTA (purple top) tube.
DNA – 3 ug of DNA with a concentration of at least 50 ng/ul
Saliva – please contact the lab regarding the availability of collection kits by emailing DGDGeneticCounselor@chop.edu.
Skin biopsy or two T25 flasks of cultured fibroblasts from skin*
*If the individual being tested has suspected or confirmed myelodysplasia or leukemia/lymphoma, or if the individual is the recipient of a donor (allogenic) bone marrow transplant, cultured fibroblasts from skin are the preferred specimen to assess for constitutional genetic variants.
Minimum Required
1 mL of whole blood
Phlebotomy Draw
Yes
Clinical Features
The Comprehensive Hereditary Cancer Panel analyzes multiple genes associated with increased risk to develop cancer. This test should be considered for individuals whose medical and/or family histories suggest a predisposition to cancer.
Performing Lab
Division of Genomic Diagnostics
Performed
Monday-Friday, 9:00am - 4:00pm
Reported
28 days
Detection Rate
The detection rate depends on the clinical indication for testing, the molecular etiology of the condition, and the genes covered by the panel. Please contact dgdgeneticcounselor@chop.edu with case-specific questions.
Utility
The clinical utility of the assay is to support a clinical diagnosis and facilitate genetic counseling for the patient and their family.
Next generation sequencing: Genomic DNA was extracted from patient tissue following standard DNA extraction protocols. Whole genome sequencing was performed on the Illumina NovaSeq 6000 platform using the Illumina DNA PCR-Free Library Prep with 150bp paired-end reads. Mapping and analysis were based on the GRCh38 reference sequence. Sequencing data was processed using the Dragen pipeline (Illumina) to call both sequence and copy number variants. Long-range polymerase chain reaction (LR-PCR) was performed for the PMS2 and SBDS genes followed by next generation sequencing.
Molecular Testing Notes
The Comprehensive Hereditary Cancer Panel includes sequence and copy number analyses of genes associated with cancer predisposition. This panel includes the following genes (list version 2.0):
* Sequence analysis only is performed for these genes.
** Copy number analysis only is performed for these genes.
‡ The regions of interest (ROIs) also include the promoter and/or non-coding regions of APC (promoter and non-coding regions for sequence and copy number analysis), GATA2 (non-coding region for sequence analysis), RMRP (promoter region and noncoding regions for sequence analysis), and TERC (promoter and non-coding regions for sequence and copy number analysis).
CPT Codes
81455, 81479x2
Collection
Collect
Blood – 2-3 mL in an EDTA (purple top) tube.
Bone Marrow - 2-3 mL in an EDTA (purple top) tube.
DNA – 3 ug of DNA with a concentration of at least 50 ng/ul
Saliva – please contact the lab regarding the availability of collection kits by emailing DGDGeneticCounselor@chop.edu.
Skin biopsy or two T25 flasks of cultured fibroblasts from skin*
*If the individual being tested has suspected or confirmed myelodysplasia or leukemia/lymphoma, or if the individual is the recipient of a donor (allogenic) bone marrow transplant, cultured fibroblasts from skin are the preferred specimen to assess for constitutional genetic variants.
Specimen Preparation
Please provide relevant clinical and family history. 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 blood 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
Blood – 2-3 mL in an EDTA (purple top) tube.
Bone Marrow - 2-3 mL in an EDTA (purple top) tube.
DNA – 3 ug of DNA with a concentration of at least 50 ng/ul
Saliva – please contact the lab regarding the availability of collection kits by emailing DGDGeneticCounselor@chop.edu.
Skin biopsy or two T25 flasks of cultured fibroblasts from skin*
*If the individual being tested has suspected or confirmed myelodysplasia or leukemia/lymphoma, or if the individual is the recipient of a donor (allogenic) bone marrow transplant, cultured fibroblasts from skin are the preferred specimen to assess for constitutional genetic variants.
Minimum Required
1 mL of whole blood
Phlebotomy Draw
Yes
Ordering
Clinical Features
The Comprehensive Hereditary Cancer Panel analyzes multiple genes associated with increased risk to develop cancer. This test should be considered for individuals whose medical and/or family histories suggest a predisposition to cancer.
Performing Lab
Division of Genomic Diagnostics
Performed
Monday-Friday, 9:00am - 4:00pm
Reported
28 days
Detection Rate
The detection rate depends on the clinical indication for testing, the molecular etiology of the condition, and the genes covered by the panel. Please contact dgdgeneticcounselor@chop.edu with case-specific questions.
Utility
The clinical utility of the assay is to support a clinical diagnosis and facilitate genetic counseling for the patient and their family.
Next generation sequencing: Genomic DNA was extracted from patient tissue following standard DNA extraction protocols. Whole genome sequencing was performed on the Illumina NovaSeq 6000 platform using the Illumina DNA PCR-Free Library Prep with 150bp paired-end reads. Mapping and analysis were based on the GRCh38 reference sequence. Sequencing data was processed using the Dragen pipeline (Illumina) to call both sequence and copy number variants. Long-range polymerase chain reaction (LR-PCR) was performed for the PMS2 and SBDS genes followed by next generation sequencing.
Molecular Testing Notes
The Comprehensive Hereditary Cancer Panel includes sequence and copy number analyses of genes associated with cancer predisposition. This panel includes the following genes (list version 2.0):
* Sequence analysis only is performed for these genes.
** Copy number analysis only is performed for these genes.
‡ The regions of interest (ROIs) also include the promoter and/or non-coding regions of APC (promoter and non-coding regions for sequence and copy number analysis), GATA2 (non-coding region for sequence analysis), RMRP (promoter region and noncoding regions for sequence analysis), and TERC (promoter and non-coding regions for sequence and copy number analysis).
