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 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
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 Bone Marrow Failure Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with predisposition to bone marrow failure. Clinical symptoms include inadequate production of one or more blood cell lineage(s). Additional clinical features vary among the conditions which can be detected through this panel.
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
Identification of an underlying genetic cause is critical in establishing an inherited versus acquired etiology for bone marrow failure, which impacts patient management and genetic counseling for families of affected patients.
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.
* 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 ANKRD26 (non-coding region for sequence analysis), GATA2 (non-coding region for sequence analysis), RMRP (promoter and non-coding regions for sequence analysis), and TERC (promoter and noncoding regions for sequence and copy number analysis).
CPT Codes
81411, 81479 x2
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 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
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 Bone Marrow Failure Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with predisposition to bone marrow failure. Clinical symptoms include inadequate production of one or more blood cell lineage(s). Additional clinical features vary among the conditions which can be detected through this panel.
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
Identification of an underlying genetic cause is critical in establishing an inherited versus acquired etiology for bone marrow failure, which impacts patient management and genetic counseling for families of affected patients.
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.
* 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 ANKRD26 (non-coding region for sequence analysis), GATA2 (non-coding region for sequence analysis), RMRP (promoter and non-coding regions for sequence analysis), and TERC (promoter and noncoding regions for sequence and copy number analysis).
