Congenital Adrenal Hyperplasia (CAH MLPA)

Test Code
SLS14024
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What is MLPA CAH?

Multiplex Ligation-dependent Probe Amplification (MLPA) for Congenital Adrenal Hyperplasia (CAH) is a screening test that can detect mutations in CYP21A2 gene, which encodes the 21-hydroxylase enzyme. This enzyme is crucial for the production of cortisol, a hormone essential for regulating stress, blood pressure, and blood sugar.

Mutations in the CYP21A2 gene cause CAH, which are a group of autosomal recessive disorders with a wide range of symptoms, including ambiguous genitalia in females, early puberty in males, excessive growth, and electrolyte imbalances.

Genes Covered/No of Genes: 1
Congenital Adrenal Hyperplasia (CAH MLPA)

CAH Overview:

  • CAH is a group of autosomal recessive disorders caused by enzyme deficiencies involved in cortisol production.
  • The most common form is due to mutations in the CYP21A2 gene, encoding the 21-hydroxylase enzyme.
  • This enzyme is essential for cortisol production, which regulates stress, blood pressure, and blood sugar.
  • Clinical Manifestations:
    • CAH can present with various symptoms, including:
      • Ambiguous genitalia in females.
      • Early puberty in males.
      • Excessive growth.
      • Electrolyte imbalances.

Who is CAH MLPA for?

  • Individuals with suspected CAH: Based on clinical symptoms or biochemical findings
  • Newborn screening confirmation: When newborn screening indicates a possible CAH diagnosis
  • Individuals with a family history of CAH: To determine carrier status or confirm a diagnosis
  • Prenatal testing: When there is a risk of the fetus having CAH
  • Individuals with atypical symptoms: Where CAH is suspected, but the symptoms are not typical
Methodology: MLPA

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