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

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)

 

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

 

Aids 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)