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Aplastic
Anemia
|
| Genes: |
|
TERT
and TR
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| Test: |
|
Direct mutation analysis by DNA
sequencing of all coding regions plus intron/exon
boundaries.
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CPT Codes:
|
|
83891 x 1
83898 x 23
83904 x 46
83909 x 46
83912 x 1
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| Sensitivity: |
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Up to 7% of non-pediatric patients with aplastic anemia (or
aplastic anemia and some features of dyskeratosis congenita)
have a mutation in one of their TR
or TERT genes.
Mutations
in TERT and TR have been reported in association with other hematological
disorders (e.g. myelodysplastic syndrome, juvenile myelomonocytic
syndrome, paroxysmal nocturnal hemoglobinuria), but represent
less than 1% of all cases.
TERT
and TR mutations
have also been reported in autosomal dominant dyskeratosis
congenita and idiopathic pulmonary fibrosis.
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| Cost: |
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$2354 |
| Turn
Around Time: |
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5
to 6 weeks |
| Special
Considerations: |
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Additional sample is required from patients with aplastic anemia
secondary to low while 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.
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Link to
Sample Requirements
Link to Requisition and
Billing forms
Link to clinical information on Aplastic Anemia.
Link to Patient and Family
Page for general resources on genetic testing.
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