Rekord LOINC: 103844-7
Dostępne tłumaczenie polskie ACTIVE
Tłumaczenie polskie
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
103844-7
FHIR
|
| Long Common Name: | HBA1 and HBA2 gene deletion in Amniotic fluid or Chorionic villus sample by Molecular genetics method |
| Short Name: | HBA1 + HBA2 Del Amn/CVS |
| Status: | ACTIVE |
| Class Type: | 1 |
Fully Specified Name (FSN)
Klasyfikacja
| Class: |
PLdelecje lub duplikacje
ENMOLPATH.DELDUP
|
| Consumer Name: | - |
| Order/Observation: | Both |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | N |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.77 |
Definicja i opis
Alpha-globin is an essential component of the hemoglobin tetramer, starting from the early stages of embryonic development. Deletion mutations involving one or both of the two alpha-globin genes (alpha1 and alpha2, located on chromosome 16p13) lead to reduced production of alpha-globin chains, and are the major cause of alpha-thalassemia. Severity of the disease is dependent on the total copy number of functional alpha-globin genes remaining. This assay detects the seven most common deletions (-alpha3.7, -alpha4.2, -alpha20.5, --SEA, --MED, -FIL, and --THAI) found in patients with alpha-thalassemia. This assay is performed by allele-specific PCR amplification of deletion mutation fragments, followed by agarose gel electrophoresis of the amplification products.
Powiązane nazwy
diagnostyka molekularna Gen HBA2;Gen podjednostki alfa 2 hemoglobiny Geny HBA1 i HBA2