Telomere Biology Disorders Panel
Test Mnemonic
TELPAN
Includes
- ACD
- CTC1
- DKC1
- NHP2
- NOP10
- PARN
- POT1
- RTEL1
- STN1
- TERC
- TERT
- TINF2
- WRAP53
Performing Laboratory
Invitae
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 3 mL | Whole blood | EDTA (Lavender) | Refrigerated | 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. |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| Other | Saliva | See note | Provider must supply patient with Oragene self-collection kit (OG500/OGD500/OGD510) from Invitae. Follow kit instructions for collection and shipping. | ||
| Other | Buccal | See note | Provider must supply patient with ORAcollect Dx OCD-100 from Invitae. Follow kit instructions for collection and shipping. | ||
| 5 ug | Extracted DNA | Sterile container | Frozen | Concentration: 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 |
|---|---|
| Refrigerated | 2 weeks |
| Ambient | 48 hours |
| Frozen | Unacceptable |
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.