American Bully Pack: Progressive Retinal Atrophy (crd1-PRA), Cystinuria, Hyperuricosuria (HUU/SLC), Neuronal Ceroid Lipofuscinosis (NCL), Degenerative Myelopathy (DM exon 2)

Panel genético del American bully que agrupa cinco condiciones hereditarias recesivas prevalentes en razas tipo bull/pit: la atrofia progresiva de retina tipo crd1 (crd1-PRA, degeneración precoz de fotorreceptores), la cistinuria (cálculos de cistina en vías urinarias), la hiperuricosuria/hiperuricemia (HUU, riesgo de urolitos de urato), la lipofuscinosis neuronal ceroide (NCL, degeneración neurodegenerativa de inicio adulto) y la mielopatía degenerativa (DM, variante del exón 2 de SOD1). El American bully desciende del American Staffordshire terrier y comparte varias variantes por efecto fundador.

View full details →

Diseases included in this pack

Bulldog cystinuria (French/English) - SLC3A1 haplotype (Autosomal recessive: both haplotype variants in homozygosity for the disease (type I-A, not androgen-dependent).)

Genetic test for type I-A cystinuria in French and English Bulldogs: detects the SLC3A1 haplotype c.[574A>G;2092A>G] (p.[(I192V);(S696G)]), associated with defective renal reabsorption of cystine with urolithiasis and risk of urinary obstruction. The molecular test is complementary —not a substitute— to urinalysis a…

Hyperuricosuria (SLC) (Autosomal recessive)

Hyperuricosuria is a defect of renal uric acid transport caused by a variant of the SLC2A9 gene, historically described as G616T (p.Cys188Phe) and also noted as Cys181Phe depending on the reference transcript. It increases urinary urate excretion and the risk of urate uroliths. The Dalmatian is the paradigmatic breed.

Canine Degenerative Myelopathy exon 2 (All Breeds) (Autosomal recessive with age-dependent and incomplete penetrance)

Neurodegenerative disease of the spinal cord, the canine equivalent of human amyotrophic lateral sclerosis (ALS) due to SOD1 mutations. The classic variant (exon 2 of the SOD1 gene, described in 'all breeds') produces a dysfunctional superoxide dismutase 1 and degeneration of the long spinal tracts, with progressive…

Neuronal Ceroid Lipofuscinosis (NCL) Formerly American Staffordshire Cerebellar Ataxia (Autosomal recessive)

Adult-onset neurodegenerative lysosomal storage disease of the American Staffordshire terrier, historically known as the breed's 'old cerebellar ataxia'. It produces accumulation of autofluorescent lipofuscin material in neurons and progressive degeneration of the central nervous system. It is inherited in an autoso…

crd1-PRA (Autosomal recessive)

Form of progressive retinal atrophy due to cone-rod dystrophy (crd1) described in the American Staffordshire Terrier. Its molecular basis is confirmed: an in-frame deletion of three base pairs in the PDE6B gene, which causes early and rapidly progressive degeneration of cones and rods and progresses to blindness.

Frequently asked questions

What does this pack include?

It includes 5 hereditary disease tests: Bulldog cystinuria (French/English) - SLC3A1 haplotype, Hyperuricosuria (SLC), Canine Degenerative Myelopathy exon 2 (All Breeds), Neuronal Ceroid Lipofuscinosis (NCL) Formerly American Staffordshire Cerebellar Ataxia…. 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.