Dyskeratosis Congenita (DKC) is a rare, progressive bone marrow failure syndrome characterized by reticulated skin hyperpigmentation, nail dystrophy and oral leukoplakia. Patients usually present with symptoms of skin hyperpigmentation and nail changes during the first decade of life. It is caused by germline mutations in genes regulating telomere maintenance, resulting in very short telomeres. DKC is a genetically heterogeneous with X-linked recessive form being the most common, autosomal dominant and autosomal recessive subtypes based on different patters of inheritance. Early mortality is associated with bone marrow failure, infections, lung and pulmonary complications as well as malignancy.
The Igenomix Dyskeratosis Congenita Precision Panel can be used for an accurate and directed diagnosis as well as differential diagnosis of reticulate pigmentary disorders ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Dyskeratosis Congenita Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms:
- Abnormal skin pigmentation (tan-to-gray hyperpigmented or hypopigmented macules and patches)
- Nail dystrophy
- Skin atrophy and telangiectasia
- Alopecia of the skin, eyebrows and eyelashes
- Mucosal leukoplakia
- Bone marrow failure
- Dental manifestations
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment involving a multidisciplinary team in the form of hematopoietic stem cell transplantation as well as medical care to prevent complications and early surveillance of malignancy.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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