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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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TOPORS-Related Retinitis Pigmentosa tests available.

RETINITIS PIGMENTOSA 31 | RP31 | p53-BINDING PROTEIN 3 | P53BP3 | LUN

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis TOPORS Deletion/Duplication Analysis
Test Code: 2893
Sequence & Deletion/Duplication Analysis TOPORS Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 2894
Sequence Analysis TOPORS Sequence Analysis
Test Code: 2890
TOPORS Sequence Analysis
Test Code: 2891

This test can only be performed if there is a previously identified familial mutation.
TOPORS Sequence Analysis
Test Code: 2892

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.


TOPORS Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 2890
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#2891). Please see detailed requirements under this test code.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: TOPORS
Protein Name: E3 ubiquitin-protein ligase Topors 
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Inherited Eye Disorders
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tubes 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.

Specimen Type: Saliva
Requirements: Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction).
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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