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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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Glycogen Storage Disease Type Ia (G6PC , GSD1a) tests available.

GSDIa | Glucose-6-Phosphatase Deficiency | Von Gierke Disease

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis G6PC Deletion/Duplication Analysis
Test Code: 3133
Sequence & Deletion/Duplication Analysis G6PC Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3134
Sequence Analysis G6PC Sequence Analysis
Test Code: 3130
G6PC Sequence Analysis
Test Code: 3131

This test can only be performed if there is a previously identified familial mutation.
G6PC Sequence Analysis
Test Code: 3132

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.


G6PC Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 3130
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3131). Please see detailed requirements under this test code.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: G6PC (GSD1a)
Protein Name: Glucose-6-phosphatase
Test Type: Sequence 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.

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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