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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeAAT
Method

Quantitation by immunoassay.

Phenotyping by isoelectric focusing on polyacrylamide gels.

Diagnostic Use / Indications

For the detection of alpha-1-antitrypsin deficiency.

Hereditary deficiency can cause early onset emphysema, neonatal hepatitis or juvenile cirrhosis.

A deficiency could be masked if alpha-1-antitrypsin is increased due to a concomitant acute inflammatory response (caused by inflammation, infection, trauma, or malignancy) or if the patient is on oral contraceptives.

Low levels are also seen in children with respiratory distress syndrome, severe neonatal hepatitis, nephrotic syndrome (sometimes) and severe liver or pancreatic disease. Phenotyping will confirm if a decrease is due to a genetic deficiency.

Risk of Wegener's granulomatosis or Henoch-Schonlein purpura is increased in ATT deficient individuals.

Phenotyping is performed to confirm the basis of an apparent alpha-1-antitrypsin deficiency.

External Price$111.18(Exclusive of GST)
  

Specimen Collection

 
Patient SpecimenBlood 10mL Plain(Red),Heparin(Green), EDTA(Lavende
Paediatric SpecimenBlood 0.3 mL Plain(Red),Heparin(Green), EDTA(Lavender)
  

Instructions for Referral to CHLabs

 
Aliquot InstructionsMinimum 250 uL, preferred >0.5 mL serum (preferred), or plasma. Refrigerate.
Aliquot Transport to CHLRefrigerated (preferred) or ambient.
  

CHLabs Laboratory

 
DepartmentBiochemistry - Protein Laboratory
Contact Details Email Email
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Contact Phone Number(03)3640334 | x80334
Test AvailabilityPerformed weekly
Turnaround Time1 - 2 weeks
Reference Interval

Alpha-1-Antitrypsin: 1.0-2.0 g/L

Alpha-1-Antitrypsin Phenotyping: 

The interpretive report will identify the alleles present. For rare alleles, the report will indicate whether or not they are of clinical significance.

 

 

Interpretation

MM phenotype is the normal pattern associated with normal serum AAT level. Most normal individuals have the M phenotype (M, M1, or M2). Over 99% of M phenotypes are genetically MM. In the absence of family studies, the phenotype (M) and quantitative level can be used to infer the genotype (MM).

MS is a common variant which has no clinical effect.

The most common alleles associated with a quantitative deficiency are Z and S.

The Z allele is the most common type that causes clinical effects of AAT deficiency especially in homozygous form (ZZ). ZZ homozygotes have significantly low AAT level in blood (unable to be secreted from liver to blood). These patients are at risk of early onset emphysema accelerated by smoking. They are also at risk for neonatal hepatitis or early onset adult liver cirrhosis (with earlier presentation in alcoholics). MZ heterozygotes have a slight increased risk of emphysema especially in smokers. SZ heterozygotes in general have an AAT level somewhere between MZ and ZZ. SZ heterozygotes carries an intermediate risk for early onset emphysema accelerated by smoking and earlier onset adult cirrhosis.

 

 

Delphic Number Test NumberAAT

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