Genetic TestsTERT Sequencing

• Test Name: TERT Sequencing
• Test Code: 4830

• “Dyskeratosis congenita, autosomal dominant 2” (OMIM #: 613989) || Gene: TERT (OMIM #: 187270)
• “Dyskeratosis congenita, autosomal recessive 4” (OMIM #: 613989)
• “Leukemia, acute myeloid” (OMIM #: 601626)
• “Melanoma, cutaneous malignant, 9” (OMIM #: 615134)
• “Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1” (OMIM #: 614742)

• TELOMERASE CATALYTIC SUBUNIT
• TCS1
• EST2

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Multisystem Diseases