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Test ID: HGEM    
Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Blood Spot

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Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens

 

Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in the differential diagnosis of short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies

 

Diagnosis of glutaric acidemia type 1

 

Aiding in diagnosis of glutaric acidemia type 2

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Second-tier newborn screening for follow-up of C4-acylcarnitine and glutarylcarnitine (C5DC) elevations.

 

Differentiating diagnoses of short-chain Co-A dehydrogenase (SCAD) deficiency, isobutyryl-CoA dehydrogenase (IBDH) deficiency, and ethylmalonic encephalopathy.

 

Differentiating diagnoses of glutaric acidemia type I (GA-1) and glutaric acidemia type II (GA-2)

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

HGEM, BS

Aliases Lists additional common names for a test, as an aid in searching

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency
Ethylmalonic encephalopathy (EE)
Isobutyryl-CoA dehydrogenase (IBDH) deficiency
Glutaric acidemia type 1 (GA-1)
Glutaric academia type 2 (GA-2)
GA 1
GA I
GA1
GAI
GA 2
GA II
GA2
GAII
Glutaryl-CoA Dehydrogenase (GCDH) Deficieny
GCDH (Glutaryl-CoA Dehydrogenase) Deficiency
Blood Spots
Newborn Screening
Multiple acyl-CoA dehydrogenase deficiency (MADD)