Dr. van Haeringen Laboratorium B.V.

H684 Subvalvular Aortic Stenosis


Subvalvular aortic stenosis (SAS) is one of the most commonly reported congenital heart defects in dogs. It is characterized by an abnormal ridge or ring of tissue in the left ventricular outflow tract (LVOT) that hinders ventricular ejection, generates pressure overload, and increases velocity of blood flow into the aorta. SAS is known to be an inherited defect in Newfoundland dogs. A genetic study identified a mutation in the PICALM gene, which was associated with the development of SAS in this breed. However, the relevance of this mutation is highly controversial, because a replication study failed to show any association between the PICALM variant and SAS and therefore classified the mutation as a neutral variant that occurs at high frequencies in Newfoundland dogs and is rare or absent in most other dog breeds.

Test specific information



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.

Turnaround time

The Turnaround Time (TAT) depends on various factors, such as the shipment time of your sample to the test location, the test method(s) and whether the tests are performed completely or partially by a Partner Lab or Patent owner.

The TAT of tests performed at our facilities is normally 10 working days after receipt of the sample at the testing laboratory (VHL, VHP or Certagen). For tests performed by a Partner Laboratory (so-called "partner lab test") or patent owner, the TAT is at least 20 working days after receipt of your sample. Because the shipment time to our Partner Labs or patent owner may vary due to factors we cannot influence, the mentioned 20 working days are therefore an estimate.

Sometimes it is necessary to re-run your sample. We call this a retest. In that case, the TAT will of course be extended.

Location of disease or trait

This disease leads to a loss of heart function.

Breed dependence

This DNA test is available for the following breeds: New Foundlander. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

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


An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.

An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.

An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.


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


Code H684

Subvalvular Aortic Stenosis

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