Wilson Syndrome® NGS SEQUENCING KIT

Wilson Syndrome® NGS SEQUENCING KIT is the NGS based kit developed to investigate mutations occurring in the ATP7B gene in DNA molecules isolated from blood or tissue. This kit, which was developed to sequence all the exonic regions of the ATP7B gene by the NGS method, achieves this with a single PCR reaction performed in 2 tubes.

USAGE AREAS

Wilson Syndrome® NGS SEQUENCING KIT was developed to enable the identification of molecular etiology in approximately 98% of Wilson’s disease cases. The demonstration of genetic disorder in the Wilson’s disease cases is extremely important in the diagnosis confirmation, genetic counselling, monitoring, and treatment.

ORDER PRODUCT

Description

ATP7B Mutation Detection Kit with Next Generation Sequence Analysis

Wilson’s disease is an autosomal recessive inherited copper metabolism disorder characterized by impaired liver function or neurological or psychiatric disorders. Recurrent jaundice, an acute hepatitis like manifestation, autoimmune hepatitis, fulminant hepatic failure or chronic liver disease may occur due to the damage occurring in liver. Neurological expressions of Wilson’s disease include movement disorders such as tremors, chorea, choreatetosis, mask face or rigidity. Again, depression, neurotic behaviour, personality disorders and often intellectual disability can occur in these patients. Inappropriate copper accumulation in many tissues and organs of the body is the reason for this clinical situation.

Biallelic mutations in the ATP7B gene in the cases that are thought to be Wilson’s disease with clinical findings are the molecular cause of the disease. Sequence analysis of all coding regions of the ATP7B gene is recommended for confirmation of diagnosis. More than 800 different mutations have been identified in this gene to date.

ORDER PRODUCT

Additional information

TECHNICAL SPECIFICATIONS

Number of Tests 25 reaction
Transportation Conditions With dry ice and cold chain
Main Material DNA
Storage -20°C
Sequence Type NGS
Kit Content PCR Mix, Primer Mix-I, Primer Mix-II