Whole Blood

	and
Lavender top tube 3 mL (EDTA)		Lavender top tube 3 mL (EDTA)

1-5 mL whole blood in EDTA tube

Submit specimen to laboratory as soon as possible after collection.

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

4 weeks

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

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.

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

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.

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