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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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Carbamoyl Phosphate Synthetase Deficiency tests available.

Carbamoylphosphate Synthetase I Deficiency | Carbamyl Phosphate Synthetase Deficiency | CPS1 Deficiency

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis CPS1 Deletion/Duplication Analysis
Test Code: 3348
Enzyme Analysis Carbamoyl Phosphate Synthetase Enzyme Analysis
Test Code: 4561
Sequence & Deletion/Duplication Analysis CPS1 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3349
Sequence Analysis CPS1 Sequence Analysis
Test Code: 3345
CPS1 Sequence Analysis
Test Code: 3346

This test can only be performed if there is a previously identified familial mutation.
CPS1 Sequence Analysis
Test Code: 3347

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.


Carbamoyl Phosphate Synthetase Enzyme Analysis
Test Information: This test provides enzymatic analysis of Carbamoyl Phosphate Synthetase for the confirmation of clinical diagnosis of Carbamoyl Phosphate Synthetase Deficiency.

Carbamoyl Phosphate Synthetase is deficient in Carbamoyl Phosphate Synthetase Deficiency.
Test Details
Test Code: 4561
Special Notes: Results from this test are not useful for Carrier Testing. Please note, carriers may have Carbamoyl Phosphate Synthetase levels in the normal range.
Technical Information
Methodology: Colorimetric
Gene Name: CPS1
Protein Name: Carbamoyl-phosphate synthase [ammonia], mitochondrial
Test Type: Enzyme Analysis
References Values or Ranges: Liver: 100-250 Ámol/hr/gm tissue
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Liver
Requirements: >10 mg of Liver for Enzyme Analysis
Shipping Conditions: Liver should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82657 x 1, 84311 x 1, 84520 x 1


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