Medical Genetics Test Details
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Intrahepatic Cholestasis - ABCB11 Related tests available.
(Click the blue dot to view test details. Red dot = current test.)
Diagnostic Testing | Familial Mutation/Variant Analysis | Mutation Testing General Population | Prenatal Diagnosis | Presymptomatic Testing | |
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Deletion/Duplication Analysis |
![]() Test Code: 3313 |
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Sequence & Deletion/Duplication Analysis |
![]() Test Code: 3314 |
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Sequence Analysis |
![]() Test Code: 3310 |
![]() Test Code: 3311 This test can only be performed if there is a previously identified familial mutation. |
![]() Test Code: 3312 We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363. |
ABCB11 Sequence Analysis (Prenatal Diagnosis) |
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Test Information: | Prenatal Diagnosis - Known Familial Mutation(s), Prenatal Diagnosis- Positive Family History or Suggestive Fetal Findings (no familial mutation known) |
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Test Details | ||
Test Code: | 3312 | |
Test Includes: |
Sequencing of the region(s) containing the familial alteration(s) | |
Special Notes: | We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363. | |
Technical Information | ||
Methodology: | Sequencing analysis of the region(s) containing the familial alteration(s) is performed in the forward and reverse directions | |
Gene Name: | ABCB11 (ABC16, PFIC-2, PGY4) | |
Protein Name: | Bile Salt Export Pump (BSEP) | |
Test Type: | Sequence Analysis |
Sample & Shipping Information | ||
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Test Requisition: | Prenatal Comprehensive | |
Specimen Type: | Specimen Information | |
Requirements: | Requirements Information | |
Shipping Conditions: | Ship at ambient temperature in an insulated container by overnight courier. |
Billing Information | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81479x1, 81265x1, 81266x1 |