Telomere Biology Disorders Panel




Test Mnemonic

TELPAN

Includes

  • ACD
  • CTC1
  • DKC1
  • NHP2
  • NOP10
  • PARN
  • POT1
  • RTEL1
  • STN1
  • TERC
  • TERT
  • TINF2
  • WRAP53

Performing Laboratory

Invitae

FDA Category

Laboratory Developed Test


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
3 mLWhole bloodEDTA (Lavender) RefrigeratedDo not collect if patient has had a transfusion containing leukocytes within two weeks or has ever had a liver or allogeneic bone marrow or stem cell transplant.

Alternate Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
OtherSalivaSee note  Provider must supply patient with Oragene self-collection kit (OG500/OGD500/OGD510) from Invitae. Follow kit instructions for collection and shipping.
OtherBuccalSee note  Provider must supply patient with ORAcollect Dx OCD-100 from Invitae. Follow kit instructions for collection and shipping.
5 ugExtracted DNASterile container FrozenConcentration: 50ng/uL gDNA. Preferred buffer: 10mM Tris-HCl, ph 8.5

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
1.5 mL    Whole blood, pediatric only

Stability

Environmental Condition Description
Refrigerated2 weeks
Ambient48 hours
FrozenUnacceptable

Days Performed

Varies

Turnaround Time

11 - 22 days

Methodology

Name Description
Next Gen Sequencing 

Special Info

Do not collect if patient has had a transfusion containing leukocytes within two weeks or has ever had a liver or allogeneic bone marrow or stem cell transplant.

Clinical Info

This test analyzes genes associated with abnormal telomere maintenance. The clinical features associated with abnormal telomere maintenance vary by gene; however, features may include dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, oral leukoplakia, bone marrow failure, hematologic malignancy, squamous cell carcinoma of the head/neck or anogenital region, pulmonary fibrosis, melanoma, sarcoma (particularly angiosarcoma) and/or brain tumors such as glioma.

Clinical Limitation

This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations.