Turnaround time
10 workdays
48.4
40
Panel test with RPGRIP1 c.142_143ins and MAP9 c.75+181_1378-215del for crd4-PRA / cord1 in Dachshunds and English Springer Spaniels.
Overview
This genetic panel combines two subanalyses for progressive retinal atrophy / crd4-PRA / cord1 in Dachshunds, Miniature Dachshunds and English Springer Spaniels. It assesses the RPGRIP1 c.142_143ins variant and the MAP9 c.75+181_1378-215del modifier.
crd4-PRA, formerly often called cord1-PRA, is an inherited retinal degeneration involving cone and rod photoreceptors. This means both daylight vision and low-light vision can deteriorate.
This form has a more complex genetic background than many classic single-variant recessive tests. The RPGRIP1 variant is the main tested variant, but dogs with this variant alone can differ widely in age of onset and severity. The MAP9 deletion acts as a modifier: it does not cause PRA on its own, but can accelerate onset and progression when present together with the RPGRIP1 variant.
Affected dogs can gradually lose vision, have difficulty tracking moving objects, become clumsy and develop night blindness or day-vision problems. With combined RPGRIP1 and MAP9 risk, signs can appear very early, while other dogs develop clear problems later in life.
For breeders, this panel is more informative than a single variant test when the goal is a fuller crd4-PRA risk assessment. The combined result helps distinguish carriers, dogs with two RPGRIP1 copies and dogs with additional MAP9 modifier load.
Included subanalyses
This analysis includes the following subanalyses:
Allele combinations & result interpretations
Below, for each tested locus, you will find the possible allele combinations that may be reported within this analysis, together with a brief explanation of their genetic meaning. The interpretation of possible interactions between different loci is included in the report, but is not shown here in full because that would lead to too many combinations on this page. The final expression may also depend on other genes and their interaction.
Genotype / allele combination: Clear / normal genotype (N/N)
No copy of the tested RPGRIP1 variant was detected. This dog will not pass this RPGRIP1 variant to offspring.
Genotype / allele combination: Carrier (N/ins)
This dog carries one copy of the tested RPGRIP1 variant and can pass it on. For crd4-PRA, pairing with another carrier and MAP9 status are especially important.
Genotype / allele combination: Affected genotype (ins/ins)
This dog has two copies of the tested RPGRIP1 variant. This is the main genetic basis for crd4-PRA/cord1, but age of onset and severity are also influenced by MAP9 and other modifiers.
Genotype / allele combination: Clear / normal genotype (N/N)
No copy of the tested MAP9 modifier was detected. This lowers the modifier load within the crd4-PRA risk assessment.
Genotype / allele combination: Carrier (N/del)
This dog carries one copy of the tested MAP9 modifier. The variant does not cause PRA by itself, but is relevant when interpreted together with RPGRIP1.
Genotype / allele combination: Affected genotype (del/del)
This dog has two copies of the tested MAP9 modifier. This modifier does not cause PRA alone, but can clearly accelerate onset and severity of crd4-PRA when the RPGRIP1 variant is also present.
Sampling and submission guidelines





References