Preimplantation Genetic Diagnosis for Cystic FibrosisPlease
see our PGD test
brochure for additional
information.
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| Gene: | CFTR |
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| Test: | Three
test panels are available: 1. Direct mutation analysis when both parents are Delta F508 carriers. 2. Analysis of linked markers for parents who are carriers of other CFTR mutations 3. A combination of direct analysis and linked markers for couples in which one member carries Delta F508 and the other carries a different mutation. |
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| CPT Codes: |
Call for information | |
| Sensitivity: | The error rate for PGD is
approximately 3%.The PGD program at Johns Hopkins
has been through extensive development and
validation stages. The main sources of error in
PGD (contamination, allele drop-out and
preferential amplification) are all addressed and
minimized by our protocol and assay design. The success rate for determining a molecular diagnosis is, as determined after more than 200 single cell assays, is 87%. |
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| Turnaround Time: | Results are reported in
24-36 hours. |
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| Cost: | Please call for information |
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| Special Considerations: | Couples must be seen through the
Division of Reproductive Endocrinology and
Infertility at Johns Hopkins. For technical information about PGD testing, please contact Barbara Karczeski, MS at 410-955-0483. For general information about the program or to refer a patient, please contact Cathy Escallon, MS at 410-955-3091. |
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