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Institute of Metabolic Disease at Baylor Research Institute
Alpha-1-antitrypsin deficiency (AATD) Mutation detection

Alpha-1-antitrypsin deficiency is a common autosomal recessive genetic disorder that the individuals develop to lung and liver disease.  AATD is characterized by Chronic Obstructive Pulmonary Disease (COPD) in adults-emphysema and liver disease in children and adults. AATD is caused by mutations in SERPINA1 Gene. The individuals who have symptoms of pulmonary disease (i.e., emphysema, asthma, persistent airflow obstruction, and/or chronic bronchitis) that suggest AATD and/or evidence of liver disease at any age or who have a family history of AATD should consider being tested.

Genetic testing for AATD is performed by screening for mutations via direct DNA sequencing. For unknown mutations, the entire gene coding regions and all exon/intron junction fragments of the SERPINA1 Gene are amplified from patient’s genomic DNA by use of specific intronic primers. For known mutations, only the appropriate exon(s) will be sequenced.  The corresponding PCR product templates are purified. Bi-directional sequencing of PCR products is performed on an ABI Prism 3100 DNA Sequencer (PE Applied Biosystems).

This procedure will be utilized for:

  • Common E342K mutation analysis
  • Individual known mutation analysis
  • Panel of 8 known mutations:
    • Glu342Lys
    • Val361Ala
    • Leu362Met
    • Gly373Trp
    • Pro386 Ser
    • Glu400Asp
    • Gln401Lys
    • Thr416Pro
  • Screening for unknown mutations
  • Prenatal diagnosis (RESEARCH test for familial mutation only)

Download Test Requisition

Department: Molecular Diagnostics
Methodology: Polymerase Chain Reaction (PCR) to amplify exons of gene and direct sequencing by Applied Biosystems sequencer 3100

Sample:

  1. Whole Blood (preferred) - 6 mL collected in an EDTA (lavender top) or ACD (yellow top) tube.  For ACD tube, either solution A or B is acceptable.
  2. Minimum sample volume – 3 mL
  3. Dried blood spot card – 3 to 5 completely filled spots
Special Notes:
FOR KNOWN MUTATION ANALYSIS (such as carrier testing) – indicate the mutation(s) on the test requisition; additionally, submit supporting documentation of the characterization of the mutation.

PRENATAL DIAGNOSIS: Prenatal Diagnosis for known mutations can be performed on a RESEARCH basis – contact the Molecular Diagnostics Laboratory Director for more information.

Shipping/Handling:
For all sample types, ship overnight at room temperature using a guaranteed overnight courier.

Turnaround time:
  • Common mutation E342K and other mutations – 2 to 4 weeks from sample receipt
  • Panel of 8 mutations – 4-6 weeks from sample receipt
  • Full Sequencing - 4-8 weeks from sample receipt

Cost:

  • Common mutation E342K  - $150.00
  • Other individual mutations (not included in the panel) - $250.00 each
  • Panel of 8 mutations - $300.00
  • Individual mutation from panel - $150.00
  • Full Sequencing - $600.00