Dr. van Haeringen Laboratorium B.V.

H340 Canine Brachycephaly


Facial retrusion is common to brachycephalic dog breeds. A genetic study identified a quantitative trait loci (QTL) on CFA1, which considerably contributes to face length variation. Most likely causative is an intronic LINE-1 sequence within the SMOC2 gene, which reduces SMOC2 expression in brachycephalic dogs. The LINE-1 sequence was found in 91,5% of chromosomes of brachycephalic dogs but only 2,1% of chromosomes of non-brachycephalic dogs.

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.

Turn Around Time

The turn-around-time of a test depends to a large extent on the logistics of sample transportation to the laboratory. After receiving the sample at the test location, you can normally expect the result within 10 working days. A longer delivery time applies to tests carried out by a Partner Lab.

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: Affenpinscher, Boston Terrier, Boxer, Bull Mastif, Cane Corso, Cavalier King Charles Spaniel, Chihuahua, Dogue de Bordeaux, English Bulldog, French Bulldog, Griffon Bruxellois, Japanese Chin, Mastiffs, Neapolitan Mastiff, Pekingese, Pug Dog, Rottweiler, Shih Tzu. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

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




Severity of Disease


Code H340

Canine Brachycephaly

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