A1AT
16 days
Two variants are analyzed: c.1096 G>A (p. Glu366Lys), commonly referred to as the Z allele or PI*Z c.863 A>T (p.Glu288Val), commonly referred to as the S allele or PI*S. DNA analysis of the S and Z alleles in the SERPINA1 gene (NM_000295.4) is performed by multiplex allele-specific PCR amplification followed by gel electrophoresis.
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Genetic test for mutations in the SERPINA1 gene. Confirms diagnosis of alpha-1-antitrypsin deficiency.
Whole Blood amniotic fluid chorionic villus sample (CVS) (submission of maternal Blood is required for fetal testing) or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS OR LabCorp buccal swab kit
Lavender-top (EDTA) tube or yellow-top (ACD) tube, sterile plastic conical tube OR two confluent T-25 flasks for fetal testing, OR LabCorp buccal swab kit
No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.
This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.
| Temperature | Period |
|---|---|
| Room temperature | 28 days |
| Refrigerated | 28 days |