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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
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Medical Genetics Test Details

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Leber Congenital Amaurosis, Calcium Binding Protein 4 Deficiency tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis CABP4 Deletion/Duplication Analysis
Test Code: 5083
Sequence & Deletion/Duplication Analysis CABP4 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 5084
Sequence Analysis CABP4 Sequence Analysis
Test Code: 5080
CABP4 Sequence Analysis
Test Code: 5081

This test can only be performed if there is a previously identified familial mutation.
CABP4 Sequence Analysis
Test Code: 5082

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.


CABP4 Sequence Analysis
(Familial Mutation/Variant Analysis)
Test Information: Confirmation of Clinical Diagnosis - Known Familial Mutation(s)
Test Details
Test Code: 5081
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: CABP4
Protein Name: CALCIUM-BINDING PROTEIN 4
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
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.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479 x 1


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