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.
Acute intermittent porphyria (AIP) - variant 1 (HMBS c.189dupT)
Genotype / allele combination: Variant not detected
The tested HMBS c.189dupT was not detected. For this subanalysis, this cat has no genetic indication for acute intermitterende porfyrie / AIP and does not pass on this specific variant.
Genotype / allele combination: Heterozygous positive
One copy of HMBS c.189dupT was detected. For this dominant AIP variant, this is a positive result: this cat can develop acute intermitterende porfyrie / AIP and can pass the variant to about half of its offspring.
Genotype / allele combination: Homozygous positive
Two copies of HMBS c.189dupT were detected. This is a positive result for this AIP variant and should be considered carefully for health, breeding plans and family testing.
Acute intermittent porphyria (AIP) - variant 2 (HMBS c.842_844delGAG)
Genotype / allele combination: Variant not detected
The tested HMBS c.842_844delGAG was not detected. For this subanalysis, this cat has no genetic indication for acute intermitterende porfyrie / AIP and does not pass on this specific variant.
Genotype / allele combination: Heterozygous positive
One copy of HMBS c.842_844delGAG was detected. For this dominant AIP variant, this is a positive result: this cat can develop acute intermitterende porfyrie / AIP and can pass the variant to about half of its offspring.
Genotype / allele combination: Homozygous positive
Two copies of HMBS c.842_844delGAG were detected. This is a positive result for this AIP variant and should be considered carefully for health, breeding plans and family testing.
Acute intermittent porphyria (AIP) - variant 3 (HMBS c.445C>T)
Genotype / allele combination: Variant not detected
The tested HMBS c.445C>T was not detected. For this subanalysis, this cat has no genetic indication for acute intermitterende porfyrie / AIP and does not pass on this specific variant.
Genotype / allele combination: Heterozygous positive
One copy of HMBS c.445C>T was detected. For this dominant AIP variant, this is a positive result: this cat can develop acute intermitterende porfyrie / AIP and can pass the variant to about half of its offspring.
Genotype / allele combination: Homozygous positive
Two copies of HMBS c.445C>T were detected. This is a positive result for this AIP variant and should be considered carefully for health, breeding plans and family testing.
Acute intermittent porphyria (AIP) - variant 4 (HMBS c.250G>A)
Genotype / allele combination: Clear for the tested variant
The tested HMBS c.250G>A was not detected. This cat is clear for this subanalysis and does not pass on this specific variant.
Genotype / allele combination: Carrier
One copy of HMBS c.250G>A was detected. This cat is a carrier and can pass the variant to about half of its offspring; mating to another carrier can produce affected kittens.
Genotype / allele combination: Affected genotype
Two copies of HMBS c.250G>A were detected. This genotype causes the recessive form of acute intermitterende porfyrie / AIP covered by this test and passes the variant to all offspring.
Acute intermittent porphyria (AIP) - variant 5 (HMBS c.826-1G>A)
Genotype / allele combination: Variant not detected
The tested HMBS c.826-1G>A was not detected. For this subanalysis, this cat has no genetic indication for acute intermitterende porfyrie / AIP and does not pass on this specific variant.
Genotype / allele combination: Heterozygous positive
One copy of HMBS c.826-1G>A was detected. For this dominant AIP variant, this is a positive result: this cat can develop acute intermitterende porfyrie / AIP and can pass the variant to about half of its offspring.
Genotype / allele combination: Homozygous positive
Two copies of HMBS c.826-1G>A were detected. This is a positive result for this AIP variant and should be considered carefully for health, breeding plans and family testing.
Acute intermittent porphyria (AIP) - variant 6 (HMBS c.107_110delACAG)
Genotype / allele combination: Variant not detected
The tested HMBS c.107_110delACAG was not detected. For this subanalysis, this cat has no genetic indication for acute intermitterende porfyrie / AIP and does not pass on this specific variant.
Genotype / allele combination: Heterozygous positive
One copy of HMBS c.107_110delACAG was detected. For this dominant AIP variant, this is a positive result: this cat can develop acute intermitterende porfyrie / AIP and can pass the variant to about half of its offspring.
Genotype / allele combination: Homozygous positive
Two copies of HMBS c.107_110delACAG were detected. This is a positive result for this AIP variant and should be considered carefully for health, breeding plans and family testing.
