Acute Respiratory Distress Syndrome (ARDS) H338

Background

In Dalmatian dogs, a fatal familial juvenile respiratory disease, resembling the acute respiratory distress syndrome (ARDS) was reported. The causative mutation could be identified in the ANLN gene and leads to a severe truncation of the ANLN protein. This protein is predominantly expressed in the lungs and plays an important role in the epithelial cell organization. Absence of functional ANLN protein in the lung epithelium results in disturbed cell division, which causes progressive Tachypnea and respiratory distress.

Test specific information

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Age

Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.

Throughput

Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.

Location of disease or trait

This disease is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.

Breed dependence

This DNA test is available for the following breeds: Dalmatier.

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Tissue, Swab. Please contact PharmaDNA if you wish to submit other material as listed.

Result

Inheritance

This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous). Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.

Severity of Disease

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