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Genes Tested
Inherited intrahepatic cholestasis is a heterogeneous group of disorders typically presenting as neonatal jaundice and leading to persistent liver dysfunction in children and adults. Although some of these conditions are associated with extrahepatic symptoms and varying laboratory and pathologic findings, there remains considerable clinical overlap. The JaundiceChip resequencing assay provides a rapid and cost effective analysis of the most common genetic causes of cholestatic liver disease in young children.
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Diagnostic testing in young patients with intrahepatic cholestasis of unknown etiology.
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At least 2 mL whole blood in purple top (EDTA) tube. Label tube with patient's name, birth date and date of collection. Please call 1-513-636-4474 for a free buccal swab collection kit.
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Combination of a custom designed Affymetrix Resequencing Array and PCR-based confirmational/ rescue sequencing of the coding regions, splice sites and selected untranlated regions of the above specified genes. (PCR-based sequencing of ABCB4, ABCB11, ATP8B1, JAG1 and SERPINA1 may also be ordered individually or sequentially--see test requisition).
| Disorder | Gene | Estimated Clinical Sensitivity of JaundiceChip | Estimated Clinical Sensitivity of PCR-based sequencing |
|---|
Alpha-1-antitrypsin deficiency |
Serpina1 |
72% |
>99% |
| Alagille Syndrome |
JAG1 |
47% |
88% |
FICI deficiency (PFIC1) |
ATP8B1 |
74% |
97% |
BSEP deficiency (PFIC2) |
ABCB11 |
77% |
98% |
MDR3 deficiency (PFIC3) |
ABCB4 |
82% |
>99% |
The clinical sensitivity of the JaundiceChip resequencing array varies by disease. For patients suspected to have Alagille syndrome, we recommend JAG1 PCR-based sequence analysis in lieu of the JaundiceChip resequencing array analysis given the significantly higher detection rate with the PCR-based sequencing test.
The predicted sensitivity of our JaundiceChip resequencing array is over 99% for the detection of single nucleotide base changes in the coding exons and exon/intron boundaries of the five genes analyzed. Mutations are confirmed by targeted sequencing of the fragment(s) containing the mutation(s). Deletions, insertions, genetic recombinational events, as well as mutations in regulatory regions or other untranslated regions are not detected by this test.
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3-4 weeks
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Please call our toll-free billing hotline at 1-866-450-4198 for current pricing, billing inquiries or for assistance with insurance preauthorization.
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83890, 83898(x36), 83894(x36), 83878(x36), 83892, 88386, 83904(x10), 83909 (x10), 83912
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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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test report includes a detailed interpretation of the genetic findings, the clinical significance of the result, and recommendations for clinical management and additional testing, if warranted. Results will be reported to the referring physician or health care provider as specified on the test requisition form.
For additional inquiries, contact us:
Phone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
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