Dyskeratosis Congenita
(Autosomal Dominant)
|
| Genes: |
|
TERT
and TR
|
| Test: |
|
Direct mutation analysis by DNA
sequencing of all coding regions plus intron/exon
boundaries.
|
CPT Codes:
|
|
83891 x 1
83898 x 23
83904 x 46
83909 x 46
83912 x 1
|
| Sensitivity: |
|
Approximately
10% of patients with dyskeratosis congenita
have a mutation in one of their TERT
or TR genes. Up to 7% of
non-pediatric patients with some features of dyskeratosis
congenita
and aplastic
anemia also
have a mutation in one of these genes.
Mutations
in TERT and TR have also been associated with idiopathic pulmonary fibrosis.
|
| Cost: |
|
$2354 |
| Turn
Around Time: |
|
5
to 6 weeks |
| Special
Considerations: |
|
Additional sample is required from patients who may have TERT
or TR mutations secondary to possible low white cell
counts. Please send 6 to 9 ml of whole blood if at all
possible. Also, please
include a 3 generation pedigree with the patient sample. Please call the laboratory to find
out about prices and codes for prenatal testing
and testing for a known familial mutation.
|
Link to
Sample Requirements
Link to Requisition and
Billing forms
Link to clinical information on autosomal dominant
Dyskeratosis Congenita.
Link to Patient and Family
Page for general resources on genetic testing.
|