Growth Hormone Deficiency Panel (3 Genes)
| TEST CODE | MG06640 |
| TEST NAME | Growth Hormone Deficiency Panel (3 Genes) |
| RELATED GENE | POU1F1, GH1, PROP1 |
| SYNONYMOUS | POU1F1, GH1, PROP1 |
| OMIM | X |
| HEREDITY | Autosomal Dominant/Autosomal Recessive |
| CLINICAL AREA | Pituitary hormone deficiency is a disease inherited in an autosomal dominant or recessive manner. The POU1F1 gene has been associated with the disease. Congenital growth hormone deficiency can be isolated or accompanied by other syndromes. There are 4 types of isolated form (IGHD); IGDH 1A and IGHD 1B are both inherited Autosomal Recessively and are caused by mutations in the GH1 gene (17q22). Type 2 IGHD is inherited in an autosomal dominant manner and occurs as a result of milder mutations (splice site or missense) in the GH 1 gene. In IGHD Type 2, clinical findings vary even within the same family, and patients generally respond well to exogenous growth hormone. Type 3 IGHD is inherited in an X-linked manner and is usually accompanied by hypogammaglobulinemia, and it is thought that other genes are also affected. It has been determined that this disease is a result of mutations in the gene called BTK located in Xq22.1. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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