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Biomedical Science

Congenital adrenal hyperplasia (CAH)

Table of contents

Table of contents

Introduction to Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder caused by a deficiency of an enzyme needed to produce hormones in the adrenal glands. This condition results in insufficient production of cortisol and aldosterone, causing symptoms such as dehydration, abnormal growth in children, and possible sexual development problems.

Cause: Autosomal recessive (mainly CYP21A2 gene) due to a deficiency of one of the enzymes needed for the synthesis of adrenal hormones.

Incidence: The global incidence of congenital adrenal hyperplasia (CAH) in newborns ranges from 1/10,000 to 1/15,000

Semi-automated solution

  • Product name: DELFIA® Neonatal 17a-OH- progesterone kit
  • Product code: A024-104 / A024-110
  • Manufacturer: Wallac Oy – Finland
  • Packing: 384 / 960 tests
  • Test principle:

The DELFIA® 17α-OH-progesterone for newborns (17-OHP) test is a time-resolved, solid-phase fluorescence immunoassay based on competition between europium-labeled 17-OHP and sample 17-OHP for a limited number of binding sites on the 17-OHP-specific polyclonal antibody (derived from rabbit). Danazol facilitates the release of 17-OHP from bound proteins. A second antibody, against rabbit IgG, is coated on the solid phase, facilitating separation between the bound antibody and free antigen. The Enhancement Solution separates the europium ions from the labeled antigen into the solution where they form highly fluorescent complexes with the components of the Enhancement Solution. The fluorescence in each well is then measured. The fluorescence of each sample is inversely proportional to the amount of 17-OHP present in the sample.

- Application: the kit is used to screen for congenital hypothyroidism on dried blood spots of newborns aged 2-4 days on the VICTORTM 2D fluorometer. Suitable for hospitals with small and medium sample volumes.

Other equipment required for the test:

  • VICTORTM 2D Fluorometer
  • Wallac DBS Puncher or Panthera-Puncher™ 9 Dry Blood Puncher
  • DELFIA® Plateshake
  • DELFIA Trio Plate Washer

Automated Solution

  • Product Name: GSP® Neonatal 17a-OH- progesterone kit
  • Product Code: 3305-0010
  • Manufacturer: Wallac Oy – Finland
  • Packing: 1152 tests
  • Test Principle:

The DELFIA Neonatal 17α-OH-progresterone test is a solid-phase, time-separated immunofluorescence assay based on competition between europium-labeled 17-OHP and sample 17-OHP to bind to a limited number of binding sites on a polyclonal antibody specific to 17-OHP (generated from rabbits). Danazol facilitates the release of 17-OHP from bound proteins. The secondary antibody, rabbit anti-IgG, is coated on the solid phase, facilitating the separation of the 17-OHP-specific antibody from the free antigen. The DELFIA inducer dissociates europium ions from the labeled antigen into the solution, where highly fluorescent ligands are formed with the components in the DELFIA inducer. The fluorescence signal in each well is then measured again. The fluorescence signal of each sample is inversely proportional to the concentration of 17-OHP in the sample.

- Application: The kit is used to screen for congenital adrenal hyperplasia on dried blood spots of newborns from 2 to 4 days old on the GSP® system. Suitable for hospitals and testing centers with medium and large sample volumes.

  • Other equipment required for the test:
  • GSP® system

Wallac DBS Puncher or Panthera-Puncher™ 9

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