Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

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Test Name/Synonym:

Amino Acids Quantitation, Plasma

Clinical Indications:

This test is for the investigation of disorders of amino acid metabolism.

This test may also be ordered to rule out the possibility of these disorders in a patient being assessed for the ketogenic diet.

This test may also be used to monitor known patients with certain amino acid disorders that are on diet-modified treatment.

Test Includes:

Metabolites reported from both BCG North and BCG South:

alanine	alpha-aminobutyric acid	arginine
asparagine	aspartic acid	citrulline
cystine	glutamic acid	glutamine
glycine	histidine	isoleucine
leucine	lysine	methionine
ornithine	phenylalanine	serine
taurine	threonine	tryptophan
tyrosine	valine

Additional metabolites reported from BCG North:

alloisoleucine

argininosuccinic acid

Additional metabolites reported from BCG South:

1-methylhistidine	3-methylhistidine	anserine
beta-alanine	beta-aminoisobutyric acid	carnosine
cystathionine	ethanolamine	gamma-aminobutyric acid
homocystine	hydroxylysine	hydroxyproline
phosphoethanolamine	phosphoserine	proline
sarcosine

Collection Alert:

Hours fasting must be indicated. Recommend collection following a minimum four hour fast or just before next feeding for newborns.
Specimens collected from non-fasting patients will be accepted for testing.

LABID (Connect Care):

LAB811

Specimen Type:

Blood

Primary Container:

See Specimen Collection Requirements

Minimum Collection Volume:

Biochemical Genetics North	Biochemical Genetics South
0.50 mL plasma	0.25 mL plasma

Specimen Collection Requirements:

Collect one Sodium (or lithium) Heparin (NOT PST) tube containing a minimum of 1.0 mL of blood.

Indicate length of fast, time of last feeding, or non-fasting on the requisition (with collection time).

Test Resources:

Submit request using the applicable requisition or Connect Care online order entry:

Biochemical Genetics Laboratory Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Frozen: plasma aliquot

Processing:

For ALL collection locations except for Alberta Children’s Hospital (ACH):
1. Centrifuge.
2. Transfer plasma to aliquot tube.
3. Write "NaHep" or "LiHep" on the aliquot tube label.
4. Freeze aliquot tube.

If collected at ACH outpatient Lab:

The primary tube can be put on ice (ensure not to freeze sample) or refrigerated for routine pick-ups between 08:30 to 14:30, Monday through Friday (excluding holidays).
If specimen is collected after 14:30, process sample as described above.

Transportation:

Transport frozen specimens on dry ice.
Samples must not thaw during transport.

Method:

High performance liquid chromatography (HPLC)

Method and Interpretation of Results:

Amino acids are detected using an Amino Acid Analyzer with internal standard.

Amino acid analysis enables the diagnosis of specific disorders of amino acid metabolism, as relevant primary enzyme deficiencies result in either the accumulation or reduced synthesis of specific amino acids.

Disorders Detectable by Plasma Amino Acid Analysis Include:

alpha-aminoadipic aciduria	beta-alaninemia
cobalamin disorders	cystathionase deficiency
cystathionine beta-synthase deficiency	disorders of ornithine and proline metabolism
disorders of phenylalanine and tyrosine metabolism	folate disorders
glutamic acidemia	glutamine synthase deficiency
histidinemia	hyperlysinemias
hypermethioninemias	hypertryptophanemia
inherited hyperammonemias	isovaleric acidemia (IVA)
ketotic hyperglycinemia	lipoamide (E3) dehydrogenase deficiency
maple syrup urine disease (MSUD)	methylmalonic acidemia (MMA)
mitochondrial energy metabolism disorders (i.e., primary lactic acidemias)	nonketotic hyperglycinemia (NKH)
propionic acidemia (PA)	serine biosynthesis disorders
urea cycle disorders

This test is not a reliable method for detecting and quantitating homocysteine, as levels can be altered depending on the length of time between sample collection and analysis, as well as the presence of an interfering peak that falsely suggests elevated homocysteine. Recommend ordering Homocysteine, Total - Blood (ACH for pediatric patients; <16 years old) or Homocysteine, Total - Urine (ACH) for evaluation of homocysteine levels.

Similarly, various medications can lead to ninhydrin-positive peaks that interfere with the identification and quantitation of certain amino acids. It is recommend that all current medications being taken at the time of specimen collection be provided in the reason for referral.

Routine Turn Around Time:

7 days

Testing Schedule:

Daily

Reference Interval:

Reference intervals are age-dependent and will be provided on the report.

Testing Area:

Biochemical Genetics

Performing Site:

University of Alberta Hospital or Alberta Children’s Hospital

Additional Test Information:

For priority turn-around contact Biochemical Genetics Laboratory.

Contact Comments:

Newborn Screening & Biochemical Genetics North	Biochemical Genetics South
780-407-8820	403-955-7379

Last Updated On:

Wednesday, July 10, 2024

Date of Last Review:

Aug 1 2022 12:00AM