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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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Acylglycine - Urine
PROPIONYL-CoA CARBOXYLASE DEFICIENCY | PCC DEFICIENCY | GLYCINEMIA KETOTIC | HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA | KETOTIC HYPERGLYCINEMIA | METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MMA DUE TO MCM DEFICIENCY | METHYLMALONIC ACIDURIA mut TYPE | 2-METHYL-3-HYDROXYBUTYRIC ACIDEMIA | BETA-KETOTHIOLASE DEFICIENCY | MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY | MAT DEFICIENCY | T2 DEFICIENCY | 3-OXOTHIOLASE DEFICIENCY | 3-KETOTHIOLASE DEFICIENCY | 3-KTD DEFICIENCY | HSD17B10 DEFICIENCY | HSD10 DEFICIENCY | 3-HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY | 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | MHBD DEFICIENCY | PROPIONYL-CoA CARBOXYLASE DEFICIENCY | PCC DEFICIENCY | GLYCINEMIA KETOTIC | HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA | KETOTIC HYPERGLYCINEMIA | ACADM DEFICIENCY | MCAD DEFICIENCY | MCADH DEFICIENCY | CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY | ACADS DEFICIENCY | LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY | SCADH DEFICIENCY | SCAD DEFICIENCY | EPEMA SYNDROME (ENCEPHALOPATHY PETECHIAE ETHYLMALONIC ACIDURIA) | GLUTARIC ACIDEMIA II | GLUTARIC ACIDURIA II | ELECTRON-TRANSFERRING FLAVOPROTEINS (ETF) DEFICIENCY | ETF:UBIQUINONE OXIDOREDUCTASE (ETF-QO) DEFICIENCY | GA II | ETHYLMALONIC-ADIPICACIDURIA; EMA | RIBOFLAVIN-RESPONSIVE MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY | IBD DEFICIENCY | ACYL-CoA DEHYDROGENASE FAMILY MEMBER 8 DEFICIENCY OF | ACAD8 DEFICIENCY | ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY | IVD DEFICIENCY | MCCD TYPE 1 | MCC1 DEFICIENCY | 3-METHYLCROTONYLGLYCINURIA I | METHYLCROTONYLGLYCINURIA TYPE I | MCC2 DEFICIENCY | 3-METHYLCROTONYLGLYCINURIA II | METHYLCROTONYLGLYCINURIA TYPE II | HMG-CoA LYASE DEFICIENCY | HMGCL DEFICIENCY | HL DEFICIENCY | HYDROXYMETHYLGLUTARIC ACIDURIA | MULTIPLE CARBOXYLASE DEFICIENCY LATE-ONSET | MULTIPLE CARBOXYLASE DEFICIENCY JUVENILE-ONSET | BTD DEFICIENCY | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HLCS DEFICIENCY | MULTIPLE CARBOXYLASE DEFICIENCY NEONATAL FORM | MULTIPLE CARBOXYLASE DEFICIENCY EARLY ONSET | 2-METHYLBUTYRYL GLYCINURIA | SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; SBCADD | SBCAD | 2-METHYLBUTYRYL-CoA DEHYDROGENASE
Test Information: This test provides quantitative analysis of Propionylglycine, Isobutyrylglycine, Butyrylglycine, 2-Methylbutyrylglycine, Isovalerylglycine, 3-Methylcrotonylglycine, Tiglylglycine, Hexanoylglycine, and Suberylglycine.

This test is used for diagnosis and newborn screening follow-up of several organic acidurias as well as some disorders in fatty acid oxidation, ketogenesis, and biotin utilization. Disorders screened for include:

PROPIONIC ACIDEMIA (OMIM 606054)
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM 251000)
ALPHA-METHYLACETOACETIC ACIDURIA (OMIM 203750)
17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY (OMIM 300438)
PROPIONIC ACIDEMIA (OMIM 606054)
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD (OMIM 201450)
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD (OMIM 201470)
ENCEPHALOPATHY, ETHYLMALONIC; EE (OMIM 602473)
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (OMIM 231680)
ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM 611283)
ISOVALERIC ACIDEMIA; IVA (OMIM 243500)
3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM 210200)
3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM 210210)
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD (OMIM 246450)
BIOTINIDASE DEFICIENCY (OMIM 253260)
MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM (OMIM 253270)
2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM 610006)
ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB (OMIM 600301)
KETOTHIOLASE DEFICIENCY OMIM 203750

Test Details
Test Code: 4350
Special Notes: Urine organic acid (#4200) and plasma acylcarntine (#4300) are recommended in conjunction with this test.
Technical Information
Methodology: Gas Chromatography/Mass Spectroscopy
Test Type: Analyte Analysis
References Values or Ranges: Ranges are provided in the report.
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Urine
Requirements: Send 5 cc of a random urine. Do not add preservatives. Store the specimen frozen at -20C.
Shipping Conditions: Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82570 x 1, 83921 x 7


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