Congenital Adrenal Hyperplasia Panel
$29.00
/
Whole Genome Sequencing 30X
This product is only meant for customers who already purchased a Dante Genome Test
Congenital adrenal hyperplasia (CAH) is a group of hereditary pathologies characterized by anomalies in one of the enzymes necessary for the production of three different types of hormones, such as corticosteroids, mineralocorticoids and androgens. An enzyme deficiency makes the body unable to produce one or more of these hormones.
This test supports the identification of alterations in one of the enzymes necessary for the production of hormones produced by the adrenal glands, located in the upper part of each kidney, or for those with affected family members.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
List of main conditions:
Congenital adrenal hyperplasia (CAH) is a group of hereditary pathologies characterized by anomalies in one of the enzymes necessary for the production of three different types of hormones, such as corticosteroids, mineralocorticoids and androgens. An enzyme deficiency makes the body unable to produce one or more of these hormones.
This test supports the identification of alterations in one of the enzymes necessary for the production of hormones produced by the adrenal glands, located in the upper part of each kidney, or for those with affected family members.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- 8 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- ACTH-independent macronodular adrenal hyperplasia 2
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
- Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
- Lipoid adrenal hyperplasia
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