Dyskeratosis Congenital Precision Panel

Overview

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 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.

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ACD*	Dyskeratosis Congenita, Hoyeraal-Hreidarsson Syndrome, Familial Melanoma	AD,AR	99.89	14 of 14
*CTC1*	Cerebroretinal Microangiopathy With Calcifications And Cysts, Dyskeratosis Congenita	AR	99.73	43 of 44
*DKC1*	Dyskeratosis Congenita, Hoyeraal-Hreidarsson Syndrome	X,XR,G	100	NA of NA
*NHP2*	Dyskeratosis Congenita	AR	100	3 of 3
*NOP10*	Dyskeratosis Congenita	AR	100	1 of 1
*NPM1*	Acute Myeloid Leukemia, Acute Promyelocytic Leukemia, Dyskeratosis Congenita	AD	99.89	2 of 2
*PARN*	Dyskeratosis Congenita, Pulmonary Fibrosis And/Or Bone Marrow Failure, Hoyeraal-Hreidarsson Syndrome	AD,AR	99.98	33 of 33
*RTEL1*	Dyskeratosis Congenita, Pulmonary Fibrosis And/Or Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.73	127 of 131
*TERC*	Dyskeratosis Congenita, Pulmonary Fibrosis And/Or Bone Marrow Failure, Idiopathic Aplastic Anemia	AD	na	na
*TERT*	Aplastic Anemia, Dyskeratosis Congenita, Acute Myeloid Leukemia, Cutaneous Malignant Melanoma, Pulmonary Fibrosis And/Or Bone Marrow Failure, Hoyeraal-Hreidarsson Syndrome	AD,AR	99.09	194 of 197
*TINF2*	Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal-Hreidarsson Syndrome	AD	99.94	47 of 47
*USB1*	Poikiloderma With Neutropenia, Dyskeratosis Congenita	AR	100	24 of 24
*WRAP53*	Dyskeratosis Congenita	AR	100	10 of 10

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

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