测试ID：telgp
Telomere Defects Gene Panel

For skin biopsy or cultured fibroblast specimens,fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Varies

This test in not for measuring telomere length. This test is a second-tier genetic test for hereditary telomere defects.

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Mutation, Targeted Testing, Varies.

1.原发性免疫缺陷患者信息（T791）is strongly recommended, but not required, to be filled out and sent with the specimen. This information aids in providing a more thorough interpretation of test results. Ordering providers are strongly encouraged to complete the form and send it with the specimen.

2. Include physician name and phone number with specimen.

Patient Preparation:先前来自同种异体供体或最近的（IE，距样本收集后6周）的骨髓移植会干扰测试。致电800-533-1710，以进行测试接受骨髓移植的患者的说明。

Submit only 1 of the following specimens:

Preferred:

标本类型:全血

Container/Tube:Lavender top (EDTA)

标本卷：3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

标本Stability Information:Ambient (preferred)/Refrigerated

标本类型:血点

补给品：卡血点收集滤纸（T493）

Container/Tube:

Preferred:Collection card (Whatman Protein Saver 903 Paper)

Acceptable:Whatman FTA Classic paper, Ahlstrom 226 filter paper, or Blood Spot Collection Card (T493)

标本卷：2 to 5 blood spots on collection card

Collection Instructions:

1. An alternative blood collection option for a patient <1 year of age is finger stick.

2.让在滤纸上在环境温度下在水平位置上干燥3小时。

3.不要将样品暴露于热量或直射阳光下。

4. Do not stack wet specimens.

5. Keep specimen dry.

标本Stability Information:Ambient (preferred)/Refrigerated

标本类型:Peripheral blood mononuclear cells (PBMCs)

Container/Tube:Cell pellet

Collection Instructions:作为悬浮液作为冷冻培养基或在干冰上冷冻的细胞颗粒发送。

标本Stability Information:Frozen

标本类型:Cultured fibroblasts

Container/Tube:T-75 or T-25 flask

标本卷：1个完整的T-75或2个完整的T-25瓶

Additional Information:Indicate the tests to be performed on the fibroblast culture cells. A separate culture charge will be assessed under FIBR / Fibroblast Culture. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

标本Stability Information:Ambient (preferred)/Refrigerated <24 hours

标本类型:Skin biopsy

补给品：成纤维细胞活检介质（T115）

Container/Tube:Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes of culture media can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

标本卷：4-mm punch

Additional Information:A separate culture charge will be assessed under FIBR / Fibroblast Culture. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

标本Stability Information:Refrigerated (preferred)/Ambient

标本类型:DNA

Container/Tube:2毫升螺丝顶管

标本卷：100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL

2. Include concentration and volume on tube.

标本Stability Information:Frozen (preferred)/Ambient/Refrigerated

• Informed Consent for Genetic Testing
• 原发性免疫缺陷患者信息

1.New York Clients-Informed consent is required.Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2.原发性免疫缺陷需要患者信息（T791）。请参阅特殊说明。

全血: 1 mL