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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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Intrahepatic Cholestasis - ATP8B1 Related tests available.

Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) | Benign Recurrent Intrahepatic Cholestasis Type 1 (BRIC1) | Low Gamma-GT Familial Intrahepatic Cholestasis | ATP8B1-Related Intrahepatic Cholestasis

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis ATP8B1 Deletion/Duplication Analysis
Test Code: 3308
Sequence & Deletion/Duplication Analysis ATP8B1 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3309
Sequence Analysis ATP8B1 Sequence Analysis
Test Code: 3305
ATP8B1 Sequence Analysis
Test Code: 3306

This test can only be performed if there is a previously identified familial mutation.
ATP8B1 Sequence Analysis
Test Code: 3307

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.

ATP8B1 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 3309
Test Includes: Sequence and Deletion/Duplication Analysis of ATP8B1 gene

Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3305) for point mutations or (#3308) for duplication and deletion analysis. Please see detailed requirements under these test codes.

ATP8B1 is included in the Cholestatis Panel (#2105).
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions and deletion/duplication analysis performed using a custom designed gene centric microarray.
Gene Name: ATP8B1 (ATPIC, PFIC)
Protein Name: Probable phospholipid-transporting ATPase IC
Test Type: Sequence & Deletion/Duplication Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1

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