Number of Panel Genes: 
12

Dyskeratosis congenita (DKC) is a genetically heterogeneous multisystemic disorder caused by defective telomerase maintenance.  Clinical findings include increased risk for bone marrow failure, malignancies, and pulmonary  and hepatic fibrosis. Other typical findings are dysplastic nails, abnormal pigmentation, and oral leukoplakia. Patients with DKC may also have eye abnormalities, dental problems, hair loss or prematurely grey hair, and osteoporosis.read more

Tests Available

12 Panel Genes: ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
Next Generation Sequencing
$1,390
Test Code: 5203
Deletion / Duplication
$1,150
Test Code: 5204
NGS/Del Dup Comprehensive
$2,390
Test Code: 5205

Test Details

Technical Information
Panel Genes: 
ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
Disease Groups: 
Hematological Disorders
Liver Disorders
Lung Diseases
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,390
CPT Codes: 
81479 x 12
Ordering
SKU:
5203
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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