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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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PDE6B-Related Retinitis Pigmentosa tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis PDE6B Deletion/Duplication Analysis
Test Code: 2458
Sequence & Deletion/Duplication Analysis PDE6B Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 2459
Sequence Analysis PDE6B Sequence Analysis
Test Code: 2455
PDE6B Sequence Analysis
Test Code: 2456

This test can only be performed if there is a previously identified familial mutation.
PDE6B Sequence Analysis
Test Code: 2457

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.


PDE6B Sequence Analysis
(Familial Mutation/Variant Analysis)
Test Information: Confirmation of Clinical Diagnosis - Known Familial Mutation(s), Carrier Testing - Known Familial Mutation(s)
Test Details
Test Code: 2456
Test Includes: Sequencing of the region(s) containing the familial alteration(s)

Special Notes: This test can only be performed if there is a previously identified familial mutation. A laboratory report containing the relative's mutation information, the specific biological relationship of this patient and the tested relative and the clinical status of this patient (symptomatic or asymptomatic) must be submitted with the specimen. If the original familial mutation was identified in another laboratory, this testing must be discussed with one of our genetic counselors prior to sending a specimen.
Technical Information
Methodology: Sequencing analysis of the region(s) containing the familial alteration(s) is performed in the forward and reverse directions
Gene Name: PDE6B
Protein Name: Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta precursor 
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: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


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