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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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Citrullinemia Type I tests available.

Citrullinemia Type I | Argininosuccinic Acid Synthetase Deficiency | Argininosuccinate Synthetase Deficiency | Citrullinuria | ASS Deficiency

(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
Enzyme Analysis Argininosuccinicate Synthetase Enzyme Analysis
Test Code: 4545
Argininosuccinate Synthetase Enzyme Analysis
Test Code: 4543

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.
Sequence Analysis ASS1 Sequence Analysis
Test Code: 6180
ASS1 Sequence Analysis
Test Code: 6185

This test can only be performed if there is a previously identified familial mutation.
ASS1 Sequence Analysis
Test Code: 6190

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.


Argininosuccinicate Synthetase Enzyme Analysis
Test Information: This test provides enzymatic analysis of Argininosuccinicate Synthetase for Confirmation of Clinical Diagnosis.

Argininosuccinicate Synthetase is deficient in Citrullinemia Type I.
Test Details
Test Code: 4545
Special Notes: This test can also be performed on Liver (#4544)

Results from this test are not useful for Carrier Testing. Please note, carriers may have Argininosuccinicate Synthetase levels in the normal range.
Technical Information
Methodology: Radiometric
Gene Name: ASS1
Protein Name: Argininosuccinate Synthetase
Test Type: Enzyme Analysis
References Values or Ranges: Skin Fibroblasts: 0.8-3.8 nmol/min/mg protein
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Skin Fibroblast Culture
Requirements: Send two T25 flasks at approximately 60-80% confluence.
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: 82491 x 1, 82658 x 1, 84157 x 1, 84520 x 1, 88233 x 1, 88240 x 1


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