57,48 47,50 excl. VAT

K597

Congenital adrenal hyperplasia (CAH) is a genetic hormonal disorder and is characterised by a mutation in the CYP11B1 gene.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Congenital adrenal hyperplasia (CAH) is a genetic hormonal disorder and is characterised by a mutation in the CYP11B1 gene. The CYP11B1 gene encodes for 11β-hydroxylase. A 11β-hydroxylase deficiency results in abnormal hormone levels.

Clinical features

Although CAH is a genetic disorder, clinical signs can become apparent at a later stage in life and can vary from hypertension, polyuria and excessive thirst to secondary sex characteristics and behavioral abnormalities.

Additional information

References

Pubmed ID: 22827537

Omia ID: 1661

How does it work?

Learn more

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.