Miniature Schnauzer Genetic Pack

Tests included in this pack (6)

• Sensitivity to the Mycobacterium avium complex (MAC)
• PRA Type B1, HIVEP3
• Charcot-Marie-Tooth neuropathy (CMT)
• Spondylocostal dysostosis (Comma defect)
• Persistent Müllerian duct syndrome (PMDS)
• Congenital myotonia of the Miniature Schnauzer

Each test includes the complete analysis and the detailed report. Click on the test to view its details.

Diseases included in this pack

Mycobacterium avium Complex Sensitivity (MAC) (Autosomal recessive (confirmed by pedigree analysis, GWAS and genotyping; OMIA:002854-9615).)

Hereditary predisposition to disseminated infections by the Mycobacterium avium complex (MAC) described in the Miniature Schnauzer. Affected animals present a primary immunodeficiency due to CARD9 dysfunction, with progressive systemic mycobacterial infections appearing in adulthood and involvement of reticuloendoth…

PRA Type B1, HIVEP3 (Autosomal recessive (demonstrated by pedigree and crosses; Parshall et al. 1991).)

Type B1 progressive retinal atrophy of the Miniature Schnauzer (photoreceptor dysplasia, pd): progressive degeneration of photoreceptors leading to blindness, with a normal ocular fundus until 10 months and advanced disease by around 3 years. The commercial test detects an intronic SNV in HIVEP3 strongly associated…

Charcot-Marie-Tooth Neuropathy (CMT) (Autosomal recessive. Confirmed affected dogs are homozygous for the SBF2 c.2363+1G>T variant; pedigree analysis and cosegregation support this mode of inheritance.)

Hereditary demyelinating peripheral neuropathy of the Miniature Schnauzer, the canine equivalent of human Charcot-Marie-Tooth type 4B2. It presents with motor and sensory demyelination, abnormally folded myelin and characteristic signs of lower cranial nerve dysfunction (regurgitation due to megaesophagus and aphoni…

Spondylocostal Dysostosis (Comma Defect) (Autosomal recessive (highly penetrant mode of inheritance confirmed in the index family; OMIA:001944-9615).)

Congenital recessive malformation of the axial skeleton that drastically shortens the trunk and produces hemivertebrae and rib anomalies (fusion, misalignment, reduced number), giving the puppy a 'comma' contour. Most affected animals are stillborn or die within the first hours or days of life. It may be accompanied…

Persistent Müllerian Duct Syndrome (PMDS) (Autosomal recessive limited to the male sex)

Disorder of sexual development in which chromosomal males (XY) with normal testes retain Müllerian duct derivatives (uterus, oviducts, uterine horn). It results from a defect in the anti-Müllerian hormone (AMH) pathway or its receptor (AMHR2). A hereditary form has been described in the Miniature Schnauzer.

Congenital myotonia of the Miniature Schnauzer (Autosomal recessive)

Congenital myotonia of the Miniature Schnauzer is a hereditary neuromuscular disease affecting the chloride channels of skeletal muscle. It is characterised by difficulty in relaxing the muscles after a contraction, producing stiffness, weakness and a stiff gait.nnAffected dogs show muscle stiffness during the fir…

Frequently asked questions

What does this pack include?

It includes 6 hereditary disease tests: Mycobacterium avium Complex Sensitivity (MAC), PRA Type B1, HIVEP3, Charcot-Marie-Tooth Neuropathy (CMT), Spondylocostal Dysostosis (Comma Defect)…. All are analysed in our laboratory.

What do the results mean?

The report shows the genotype and inheritance pattern of each variant. It is a breeding-decision tool: it guides which crosses to avoid, it does not guarantee the absence of disease.

How is the sample taken?

Buccal swab or 0.5–1 ml EDTA blood. The kit ships free to Spain, the EU and the UK.