Specimen:

Whole Blood

Collection Medium:

 
Lavender top tube (EDTA)

Minimum:

1-5 mL whole blood in EDTA tube

Delivery Instructions:

Submit specimen to laboratory as soon as possible after collection.

Specimen
Instructions:

Ship overnight at ambient temperature, using a cool pack in hot 
weather.  Specimens may be refrigerated for 3 days prior to shipping.

Analytic Time:

4 weeks

Interpretive Data:

Mutations in the TERC gene include a large deletion, single base 
changes, a small deletion, and a missense mutation.

Comments:

Reasons for referral:
1. Confirmation of a clinical diagnosis.
2. Genetic counseling or carrier testing for family members of the
   affected patient.
3. Confirmation that a potential hematopoietic stem cell transplant
   donor is not affected.
4. Prenatal diagnosis in at-risk pregnancies.

Please print, complete and submit the following forms to the lab, with 
the specimen and the A-1a Miscellaneous Request:

Consent Document for DNA Testing for TERC gene

   and the

Sample Submission Form (Testing Services for Rare Mendelian 
Disorders) from GeneDx DNA Diagnostic Experts.

Test
Limitations:

To avoid testing donor DNA, do not send blood after BMT or within 120 
days of whole blood (white cell) transfusion.

Methodology:

Analysis is performed by bi-directional sequencing of the coding 
regions and splice sites of exons 1-15 of the DKC1 gene or the 
non-translated single exon of TERC.  Mutations found in the first 
person of a family to be tested are confirmed by repeat analysis using 
se quenching, restriction fragment analysis, or another appropriate 
method.

CPT Code:

83891 (x2), 83898 (x4), 83894 (x2), 83904 (x4), 83892 (x2), 83912 (x2)