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Porphyria (AIP-Autosomal Dominant)

Related Terms:

Acute Intermittent Porphyria, HMBS

Type: DNA
Sample Types: Cheek brushes/swabs, Fresh EDTA blood, Other

This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.

Sample Processing
Cost: $150.00
Species and Breeds:
Feline - Domestic Short Hair
Feline - Siamese

We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Clinical Signs:

The age at which clinical signs become apparent varies substantially — 4 months to 8 years of age have been observed. Clinical signs include yellow-brown urine, erythrodontia (tooth discoloration), and porphyrinuria.

Life Expectancy:

Normal

Inheritence Mode:

Autosomal dominant

Pathology:

Porphyrin accumulation in teeth, bones and other tissues.

Mutation:

HMBS and NM_001177808.1:c.107_110delACAG (Domestic Short Hair) HMBS and NM_001177808.1:c.826-1G>A (Domestic Short Hair) HMBS and NM_001177808.1:c.445C>T (Domestic Short Hair) HMBS and NM_001177808.1:c.189dupT (Siamese) HMBS and NM_001177808.1:c.842_844delGAG (Siamese)

Explanation of Results

GenoType PhenoType Interpretation

2-2 (Homozygous Disease Variant)

Unhealthy (Affected)

Homozygous Affecteds (2-2) are expected to develop signs consistent with Porphyria (AIP-Autosomal Dominant) and all of their offspring will also be unhealthy (affected) by inheriting a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.

1-2 (Heterozygous)

Unhealthy (Affected)

Heterozygous Affecteds (1-2) are expected to develop signs consistent with Porphyria (AIP-Autosomal Dominant) and each of their offspring has a chance of being unhealthy (affected) by inheriting a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.

1-1 (Homozygous Normal)

Healthy (Normal, Clear)

Homozygous Normals (1-1) are not expected to develop signs of Porphyria (AIP-Autosomal Dominant) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

References:

Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ. Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J. 2013 Dec;198(3):720-2. doi: 10.1016/j.tvjl.2013.10.008. Epub 2013 Oct 10. PMID: 24239138; PMCID: PMC3963809. Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24. PMID: 19934113; PMCID: PMC2807367.