MOLECULAR STUDY THYROID HORMONE RESISTANCE, THRB GENE , SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4172

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Thyroid hormone resistance (sometimes Refetoff syndrome) describes a rare syndrome where the thyroid hormone levels are elevated but the thyroid stimulating hormone (TSH) level is not suppressed, or not completely suppressed as would be expected. Thyroid hormone resistance syndrome is rare, incidence is variously quoted as 1 in 50,000 or 1 in 40,000 live births. The most common cause of the syndrome are mutations of the ? (beta) form (THRB gene) of the thyroid hormone receptor, of which over 100 different mutations have been documented. The syndrome can present with variable symptoms, even between members of the same family harboring the same mutation. The most common symptoms are goiter and tachycardia. It has also been linked to some cases of attention deficit hyperactivity disorder (ADHD). The characteristic blood test results for this disorder can also be found in other disorders (for example pituitary adenoma). The diagnosis may involve identifying a mutation of the thyroid receptor. THRB mutations are present in approximately 85% of cases. Mutations in MCT8 and SECISBP2 have also been associated with this condition.
Links:
OMIM Entry - - 190160 - THYROID HORMONE RECEPTOR, BETA; THRB
OMIM Entry - # 274300 - THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH

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