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Iron-Refractory Iron Deficiency Anemia (IRIDA)

Related Terms:

Iron-handling Disorder

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: $75.00
Species and Breeds:
Canine - American Cocker Spaniel
Canine - English Cocker Spaniel

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

Clinical Signs:

Signs become apparent at a young age and include lethargy, weight loss, growth retardation, exercise intolerance, and weakness.

Inheritence Mode:

Autosomal recessive

Mutation:

Unpublished

Explanation of Results

GenoType PhenoType Interpretation

2-2 (Homozygous Disease Variant)

Unhealthy (Affected)

Homozygous Affecteds (2-2) are expected to develop signs consistent with Iron-Refractory Iron Deficiency Anemia (IRIDA) and all of their offspring will inherit 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)

Healthy (Carrier)

Heterozygous Carriers (1-2) are not expected to develop signs of Iron-Refractory Iron Deficiency Anemia (IRIDA) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.

1-1 (Homozygous Normal)

Healthy (Normal, Clear)

Homozygous Normals (1-1) are not expected to develop signs of Iron-Refractory Iron Deficiency Anemia (IRIDA) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

References:

Naigamwalla DZ, Webb JA, Giger U. Iron deficiency anemia. Can Vet J. 2012 Mar;53(3):250-6. PMID: 22942439; PMCID: PMC3280776.