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Test Code 3005

Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders Panel

17 genes

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of dyskeratosis congenita and related telomere biology disorders
  • Individuals with short telomere length determined by flow-FISH testing
  • Individuals who have a family member with presumed dyskeratosis congenita and related telomere biology disorders without previous genetic testing
  • Individuals without access to the specific variant information for a family member who has genetically-confirmed dyskeratosis congenita and related telomere biology disorders
Method
Sequencing with CNV PG-Select
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

Test type
OTHER OPTIONS
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