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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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GUCY2D-Related Leber Congenital Amaurosis tests available.

LEBER CONGENITAL AMAUROSIS 1 | LCA1 | AMAUROSIS CONGENITA OF LEBER I | LCA | RETINAL BLINDNESS CONGENITAL | CRB | Cone-rod dystrophy 6 | RETINAL CONE DYSTROPHY 2 | RCD2 | GUC2D | GUANYLATE CYCLASE 2D RETINAL | GUCY2E MOUSE HOMOLOG OF | ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE | ROSGC | RETGC | RETGC1

(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
Deletion/Duplication Analysis GUCY2D Deletion/Duplication Analysis
Test Code: 2438
Sequence & Deletion/Duplication Analysis GUCY2D Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 2439
Sequence Analysis GUCY2D Sequence Analysis
Test Code: 2435
GUCY2D Sequence Analysis
Test Code: 2436

This test can only be performed if there is a previously identified familial mutation.
GUCY2D Sequence Analysis
Test Code: 2437

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.


GUCY2D Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 2435
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#2436). Please see detailed requirements under this test code.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: GUCY2D
Protein Name: Retinal guanylyl cyclase 1 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: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


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