Skin biopsy or two T25 flasks of cultured fibroblasts from skin*
Blood – 2-3 mL in an EDTA (purple top) tube.
Bone Marrow - 2-3 mL in an EDTA (purple top) tube.
Saliva – please contact the lab regarding the availability of collection kits by emailing DGDGeneticCounselor@chop.edu.
DNA – 3 ug of DNA with a concentration of at least 50 ng/ul
*If the individual being tested has suspected or confirmed myelodysplasia or leukemia/lymphoma, or if the individual is the recipient of a donor (allogeneic) 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.
Stability (from collection to initiation)
Whole blood can be refrigerated until shipment.
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
The Telomere Disorder Panel is a next generation sequencing (NGS) panel designed to identify underlying genetic variants associated with telomere biology disorders. This group of heterogeneous inherited disorders are defined by the presence of very short telomeres. Clinical symptoms can include dysplastic nails, oral leukoplakia, bone marrow failure, acute myelogenous leukemia and pulmonary fibrosis [GeneReviews 2022, PMID: 20301779].
Performing Lab
Division of Genomic Diagnostics
Performed
Monday to Friday, 9:00am to 4:00pm
Reported
28 days
Detection Rate
Approximately 70% of individuals who meet diagnostic criteria for dyskeratosis congenita have a pathogenic variant(s) in one of these eleven genes. The majority of pathogenic variants identified are sequence variants, and the frequency of pathogenic deletions or duplications affecting these genes is unknown [GeneReviews 2016, PMID: 20301779].
Utility
While telomere length testing is used as initial screening for these disorders, identification of causative gene mutations is critical in establishing a definitive diagnosis, and may have gene-specific prognostic implications regarding disease course [GeneReviews 2016, PMID: 20301779].
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.
Molecular Testing Notes
The Telomere DIsorder Panel includes sequence and copy number analysis for the following genes: ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, WRAP53
CPT Codes
81479
Collection
Collect
Skin biopsy or two T25 flasks of cultured fibroblasts from skin*
Blood – 2-3 mL in an EDTA (purple top) tube.
Bone Marrow - 2-3 mL in an EDTA (purple top) tube.
Saliva – please contact the lab regarding the availability of collection kits by emailing DGDGeneticCounselor@chop.edu.
DNA – 3 ug of DNA with a concentration of at least 50 ng/ul
*If the individual being tested has suspected or confirmed myelodysplasia or leukemia/lymphoma, or if the individual is the recipient of a donor (allogeneic) 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.
Stability (from collection to initiation)
Whole blood can be refrigerated until shipment.
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
The Telomere Disorder Panel is a next generation sequencing (NGS) panel designed to identify underlying genetic variants associated with telomere biology disorders. This group of heterogeneous inherited disorders are defined by the presence of very short telomeres. Clinical symptoms can include dysplastic nails, oral leukoplakia, bone marrow failure, acute myelogenous leukemia and pulmonary fibrosis [GeneReviews 2022, PMID: 20301779].
Performing Lab
Division of Genomic Diagnostics
Performed
Monday to Friday, 9:00am to 4:00pm
Reported
28 days
Detection Rate
Approximately 70% of individuals who meet diagnostic criteria for dyskeratosis congenita have a pathogenic variant(s) in one of these eleven genes. The majority of pathogenic variants identified are sequence variants, and the frequency of pathogenic deletions or duplications affecting these genes is unknown [GeneReviews 2016, PMID: 20301779].
Utility
While telomere length testing is used as initial screening for these disorders, identification of causative gene mutations is critical in establishing a definitive diagnosis, and may have gene-specific prognostic implications regarding disease course [GeneReviews 2016, PMID: 20301779].
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.
Molecular Testing Notes
The Telomere DIsorder Panel includes sequence and copy number analysis for the following genes: ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, WRAP53
