Alpha-1-antitrypsin deficiency – PI*Z (p.Glu366Lys) and PI*S (p. Glu288Val) alleles in the SERPINA1 gene

Test covered by the reimbursement:
YES
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Buccal swab …
Turnover time:
3 weeks
STATIM:
3 days

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Buccal swab | 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C
Chorionic villi | Chorionic villi, min. 30 mg tissue in a microtube (Eppendorf type)
Storage after examination: week after the report is issued 2 – 8°C
Amniotic fluid | 3x 10 ml of amniotic fluid in a tube
Storage after examination: week after the report is issued 2 – 8°C
Cord blood | 2–3 ml of cord blood in EDTA
Storage after examination: week after the report is issued 2 – 8°C
Conception product | Foetal tissue in saline
Storage after examination: 1 aliquot is stored -25°C
Cultured cells | 1.5 ml of cultured cells in a microtube (Eppendorf type)
Storage after examination: 180 days 2 – 8°C
Isolated DNA from cordocentesis | 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from chorionic villi | 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
DNA isolated from the product of conception | 50–100 ng/μL in microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from amniotic fluid | 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C

Quick test description:

SERPINA1 gene testing using Sanger sequencing is performed to detect PI*Z (p.Glu366Lys) and PI*S (p. Glu288Val) alleles.

Test details:

The SERPINA1 gene encodes the protein alpha-1 antitrypsin (AAT) produced in the liver. This protein protects the bronchi and lungs from damage caused by enzymes (mainly elastase and collagenase) that produce white blood cells in the respiratory system defence against infections and other foreign substances. The congenital deficiency of alpha-1-antitrypsin is a genetic disorder. 

The SERPINA1 gene mutation leads either to the accumulation of altered (dysfunctional) AAT in the liver or to a marked reduction in AAT production. Symptoms of accumulating AAT deficiency can manifest at birth with prolonged neonatal jaundice. Liver damage in some cases escalates and requires a liver transplant in childhood. Signs of deficiency may occur when the formation of an effective form of AAT is reduced below 30% of the norm. The reduction of AAT production is manifested mainly in respiratory damage, chronic obstructive pulmonary disease (COPD) and emphysema in adulthood. Liver involvement (cirrhosis, tumours) and skin manifestations are less common. The degree of lung damage depends on past infections and prolonged contact with inhaled pollutants, e.g. working in dusty environments or smoking. 

AAT deficiency can manifest and treat as asthma. We use Sanger sequencing to detect PI*Z (p.Glu366Lys) and PI*S (p. Glu288Val) alleles. 

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