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carrier dna tests for fanconi anemia

Carrier DNA Tests For Fanconi Anemia

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Carrier DNA Tests for Fanconi Anemia

Carrier DNA Tests for Fanconi Anemia

Fanconi Anemia

Fanconi Anemia is disorder triggered by the reduced capacity of an individual’s body to refurbish DNA. The rare ailment is genetic and is brought about by mutations in 15 genes. It is often revealed before affected children reach 12 years, though, in some isolated cases, the symptoms manifest in maturity.

It is characterized by:

  1. Progressive bone marrow failure
  2. Physical anomalies such as
  • Small head or eyes
  • Skeletal anomalies of the spine and ribs
  • Missing or extra thumbs
  • Anomalies in development of the radius
  • Missing or ill-developed kidneys
  • Small reproductive organs for men
  • Mental retardation
  1. Increased risk of malignancy
  2. Reduction in amount of red blood cells
  3. Increased cancer risks

There is no cure for the majority of the symptoms associated the genetic disorder. It is an inherited disorder that results from the transmission of autosomal recessive gene mutations in the DNA of a patient. Though the disease occurs in any ethnic groups, the founder effect has led to the high occurrence of the disorder in the Ashkenazi Jewish population. The odd of the disorder affecting persons of this population are one in every 30,000 people while for other ethnic groups across the world is one in every 22,000 people.

This genetic condition is seldom detected at the birth of a person. Indicators such as blood count are numerously normal at that time. Signs that a person could be affected by the disorder start to show in the first decade of the life of such persons. Macrocytic anemia is often the initial indicator for Fanconi anemia. The universally accepted standard for determining presence or absence of the genetic disease is an estimation of chromosomal fractures brought about by cross-linking.

Inheritance and Carrier DNA Tests for Fanconi Anemia

The inconsistencies and irregularities in the 17 genes associated with this disorder that is detectable via the Invitae Fanconi Anaemia test are passed on to offspring in autosomal recessive fashion.

  • When an affected person crosses genes with a carrier, their offspring stands 50 percent chances of being affected and 50 percent chances of becoming a carrier. There are zero odds that any of their offspring will be neither affected or carriers.
  • When two carriers mate, their offspring stand 25 percent chance of being affected, 25 percent chance of being a carrier and 50 percent chance of being neither.
  • When two affected individuals mate, their kids stand 100 percent chance of being affected.
  • When an affected person mates with an individual with no Fanconi anemia (FA) genes, none of their children can be affected. They all stand 100 percent chances of becoming carriers of the recessive gene.
  • When a carrier and a non-carrier cross, their offspring stand 50 percent chances of being carriers and 50 percent chances of not having any of the disorder’s recessive genes.

Couples are advised to visit pre-conception prenatal counseling to get tested for the presence of the genes in their DNA. Such information is crucial in protecting unborn babies by reducing the chances of them inheriting the disorder.