X-linked immunodysregulation, polyendocrinopathy, enteropathy syndrome (IPEX)
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You can download the Test Requisition form (106k) in portable document format (.pdf).
About the Disorder | Indications | Specimen l Testing Methodology l Sensitivity l Turnaround Time l Cost l CPT Codes l Shipping l Results l Contact Us
About the Disorder
IPEX typically presents during infancy with systemic autoimmunity usually presenting as the classical triad of endocrinopathy (type I diabetes or thyroid disease), severe watery diarrhea and dermatitis. Older individuals typically develop failure-to-thrive, life-threatening infections and additional autoimmune disorders including various cytopenias, tubular nephrology and alopecia. IPEX is caused by mutations in the FOXP3 gene, located on the X chromosome at Xp11.23-q13.3. The IPEX gene is composed of 11 exons. Pathologic mutations have been described in most of the exons.
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Indications
- Confirmation of diagnosis in an at-risk or symptomatic individual
- Carrier identification in females with a family history of IPEX
- Prenatal diagnosis of an at-risk fetus, after identification of a mutation in a proband (by previous arrangement only).
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Specimen
At least 3 mL whole blood in purple top (EDTA) tube. Label tube with patient's name, birth date and date of collection. Buccal swabs are required for analysis in patients who have undergone transplantation and may facilitate DNA isolation in patients undergoing chemotherapy or in individuals with leukopenia. Please call 1-513-636-4474 for a free buccal swab collection kit.
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Methodology
PCR-based sequencing of the entire coding region and intron/exon boundaries of the FOXP3 gene.
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Sensitivity
Sequencing detects about 99% of the reported mutations in the FOXP3 gene in males. Approximately 60% of males with IPEX have an identifiable mutation in FOXP3.
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Turnaround Time
1 month
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Cost
Please call our toll-free billing hotline fat 866-450-4198 for current pricing, billing inquiries or for assistance with insurance preauthorization.
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CPT Codes
83890, 83898(x7), 83894(x7), 83891(x7), 83904(x14), 83909(x14), 83912
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Shipping Instructions
Please enclose test requisition with sample. All information must be completed before sample can be processed. Place samples in Styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday.
Ship to
Cytogenetics and Molecular Genetics Laboratories
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229
513-636-4474
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Results
Results will be reported to the referring physician or health care provider as specified on the requisition form.
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Contact Us
For additional inquiries, contact us:
Phone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
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