Collect

Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also acceptable.

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

Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.

Stability (from collection to initiation)

Whole blood can be refrigerated until shipment.

Performed

Monday to Friday, 9:00am to 4:00pm

Volume Required

5 ml whole blood or 8 ug extracted DNA

Minimum Required

3 ml whole blood

Phlebotomy Draw

Yes

Performed

Monday to Friday, 9:00am to 4:00pm

Methodology

Eleven genes known to be associated with telomere biology disorders are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 11 genes and 20 base pairs of 5' and 3' flanking intronic sequences are analyzed. All known intronic mutations of these genes are also evaluated. Pathogenic/likely pathogenic variants detected by NGS are confirmed by Sanger sequencing.
The panel also evaluates gross copy number variations of these genes by analyzing NGS data. Pathogenic/likely pathogenic CNVs detected by NGS are confirmed by MLPA and/or ddPCR. Certain genes or exons may not be evaluated for gross copy number variations, such as genes with no known gross deletion/duplication mutations, or genes or exons with pseudogenes or highly homologous sequences in the genome.

Reported

42 days

Synonyms

  • Dyskeratosis congenita, Revesz syndrome, Hoyeraal Hreidarsson syndrome, cerebroretinal microangiopathy, pulmonary fibrosis, bone marrow failure
  • TLMDP
  • ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, WRAP53

LIS Mnemonic

TLMDP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Telomere Disorder Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with telomere biology disorders (TBD), including dyskeratosis congenita.  Telomere biology disorders are a heterogeneous group of inherited disorders defined by the presence of very short telomeres caused by mutations in one of at least 11 different genes. Common clinical features affecting individuals with telomere biology disorders include dysplastic nails, lacy reticular pigmentation on the chest or neck, and oral leukoplakia. Other common features include risk for bone marrow failure, myelodysplastic syndrome, acute myelogenous leukemia, various solid tumors, and pulmonary fibrosis. 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].

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].

Molecular Testing Notes

Telomere biology disorders can be inherited in an x-linked, autosomal dominant, or autosomal recessive manner. There are currently 11 different genes which have been associated with telomere biology disorders, with pathogenic variants in DKC1, TINF2, TERC, or RTEL1 being the most commonly identified molecular cause. The Telomere Disorder Panel includes the following 11 genes: ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, and WRAP53.

CPT Codes

81455
Collection

Collect

Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also acceptable.

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

Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.

Stability (from collection to initiation)

Whole blood can be refrigerated until shipment.

Performed

Monday to Friday, 9:00am to 4:00pm

Volume Required

5 ml whole blood or 8 ug extracted DNA

Minimum Required

3 ml whole blood

Phlebotomy Draw

Yes
Ordering

Performed

Monday to Friday, 9:00am to 4:00pm

Methodology

Eleven genes known to be associated with telomere biology disorders are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 11 genes and 20 base pairs of 5' and 3' flanking intronic sequences are analyzed. All known intronic mutations of these genes are also evaluated. Pathogenic/likely pathogenic variants detected by NGS are confirmed by Sanger sequencing.
The panel also evaluates gross copy number variations of these genes by analyzing NGS data. Pathogenic/likely pathogenic CNVs detected by NGS are confirmed by MLPA and/or ddPCR. Certain genes or exons may not be evaluated for gross copy number variations, such as genes with no known gross deletion/duplication mutations, or genes or exons with pseudogenes or highly homologous sequences in the genome.

Reported

42 days

Synonyms

  • Dyskeratosis congenita, Revesz syndrome, Hoyeraal Hreidarsson syndrome, cerebroretinal microangiopathy, pulmonary fibrosis, bone marrow failure
  • TLMDP
  • ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, WRAP53

LIS Mnemonic

TLMDP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Telomere Disorder Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with telomere biology disorders (TBD), including dyskeratosis congenita.  Telomere biology disorders are a heterogeneous group of inherited disorders defined by the presence of very short telomeres caused by mutations in one of at least 11 different genes. Common clinical features affecting individuals with telomere biology disorders include dysplastic nails, lacy reticular pigmentation on the chest or neck, and oral leukoplakia. Other common features include risk for bone marrow failure, myelodysplastic syndrome, acute myelogenous leukemia, various solid tumors, and pulmonary fibrosis. 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].

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].

Molecular Testing Notes

Telomere biology disorders can be inherited in an x-linked, autosomal dominant, or autosomal recessive manner. There are currently 11 different genes which have been associated with telomere biology disorders, with pathogenic variants in DKC1, TINF2, TERC, or RTEL1 being the most commonly identified molecular cause. The Telomere Disorder Panel includes the following 11 genes: ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, and WRAP53.
Result Interpretation
Administrative

CPT Codes

81455