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 Platelet Disorder Panel is a next generation sequencing panel designed to identify underlying genetic disorders affecting hematologic function, immune system responses, and susceptibility to autoimmune diseases, cancers, and bleeding disorders. The clinical presentations of these disorders include but not limited to neutropenia, thrombocytopenia, anemia, platelet dysfunction, lymphoproliferation, and/or recurrent infections. These symptoms could be the main clinical presentations or a part of systematic disorders, such as Adenosine deaminase 2 deficiency, Scott syndrome, Hermansky-Pudlak syndrome, Wiskott-Aldrich syndrome, and Chediak-Higashi syndrome.
Performing Lab
Division of Genomic Diagnostics
Performed
Monday – Friday, 9:00am to 4:00pm
Reported
28 days
Detection Rate
The detection rate depends on the clinical indication for testing, the molecular etiology of the platelet disorder, and the genes covered by the panel. Please contact dgdgeneticcounselor@chop.edu with case-specific questions.
Utility
Identification of the underlying causative mutation allows for an accurate diagnosis and supports the medical management and genetic counseling provided to the patient and their family.
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 were based on the GRCh38 reference sequence. Sequencing data is processed using the Dragen pipeline (Illumina) to call both sequence and copy number variants.
* Sequence analysis only is performed for these genes.
‡ The regions of interest (ROIs) also include the non-coding regions of ANKRD26 and GATA2 for sequence analysis, as well as the pathogenic recurrent 253kb inversion variant in UNC13D.
CPT Codes
81404, 81405, 81406, 81408, and 81479
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 Platelet Disorder Panel is a next generation sequencing panel designed to identify underlying genetic disorders affecting hematologic function, immune system responses, and susceptibility to autoimmune diseases, cancers, and bleeding disorders. The clinical presentations of these disorders include but not limited to neutropenia, thrombocytopenia, anemia, platelet dysfunction, lymphoproliferation, and/or recurrent infections. These symptoms could be the main clinical presentations or a part of systematic disorders, such as Adenosine deaminase 2 deficiency, Scott syndrome, Hermansky-Pudlak syndrome, Wiskott-Aldrich syndrome, and Chediak-Higashi syndrome.
Performing Lab
Division of Genomic Diagnostics
Performed
Monday – Friday, 9:00am to 4:00pm
Reported
28 days
Detection Rate
The detection rate depends on the clinical indication for testing, the molecular etiology of the platelet disorder, and the genes covered by the panel. Please contact dgdgeneticcounselor@chop.edu with case-specific questions.
Utility
Identification of the underlying causative mutation allows for an accurate diagnosis and supports the medical management and genetic counseling provided to the patient and their family.
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 were based on the GRCh38 reference sequence. Sequencing data is processed using the Dragen pipeline (Illumina) to call both sequence and copy number variants.
* Sequence analysis only is performed for these genes.
‡ The regions of interest (ROIs) also include the non-coding regions of ANKRD26 and GATA2 for sequence analysis, as well as the pathogenic recurrent 253kb inversion variant in UNC13D.
