Idiopathic Pulmonary Fibrosis
|
| 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 8-9%
of patients with idiopathic pulmonary fibrosis have a mutation
in one of their TERT
or TR genes.
TERT
and TR mutations have
also been associated with autosomal dominant dyskeratosis
congenita and aplastic anemia.
|
| 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 Idiopathic Pulmonary
Fibrosis.
Link to Patient and Family
Page for general resources on genetic testing.
|