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Dog DNA testing illustration

Congenital Dyshormonogenic Hypothyroidism with Goiter (CDH)

Code: H446

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Congenital Dyshormonogenic Hypothyroidism with Goiter (CDH) is a disorder affecting the thyroid gland, which may cause symptoms such as a swollen neck, retarded growth and heart murmurs.

General information

Congenital Dyshormonogenic Hypothyroidism with Goiter (CDH) is a disorder affecting the thyroid gland, which may cause symptoms such as a swollen neck, retarded growth and heart murmurs. This variant of the disorder is found in the Shih-Tzu, and is caused by a recessive mutation to the gene SLC5A5.

Specifications

Breeds

Pekingese, Shih-Tzu
Gene

SLC5A5
Chromosome

20
Mutation

c.1172-1G>A
Organ

Endocrine glands
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

CDHG

Clinical features

Affected puppies present within the first few weeks of life with goiter (swelling of the thyroid gland in the throat). Further symptoms can include mild heart murmurs, cough and difficulty exercising, as well as reduced growth.

References

Pubmed ID: 29777899

Year published: 2018

Omia ID: 2174

Omia variant ID:

Turnaround information

  • 15 working days