Short Description

NGS genetic DNA test detecets for variant and mutation detection in DKC1 gene for Hoyeraal-Hreidarsson syndrome

PreTest Information

Clinical History of Patient who is going for DKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DKC1 Gene Hoyeraal-Hreidarsson syndrome

Detail Description

DKC1 Gene Hoyeraal-Hreidarsson Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Hoyeraal-Hreidarsson syndrome (HHS) is a rare genetic disorder that affects multiple systems of the body. It is caused by mutations in the DKC1 gene that codes for a protein called dyskerin. Dyskerin is essential for the production of telomerase, an enzyme that maintains the length of telomeres at the end of chromosomes. Telomeres protect genetic material from damage and shorten with each cell division, leading to aging and disease.

Symptoms of HHS

HHS is a multisystem disorder that affects the bone marrow, immune system, skin, and nervous system. The symptoms of HHS can vary widely, but some of the most common ones are:

• Bone marrow failure
• Immunodeficiency
• Abnormal skin pigmentation
• Cerebellar hypoplasia
• Microcephaly
• Developmental delay
• Growth retardation
• Abnormalities of the nails and teeth
• Shortened telomeres

The severity of symptoms can also vary, with some individuals having mild symptoms and others having life-threatening complications.

Diagnosis of HHS

The diagnosis of HHS is based on a combination of clinical features, laboratory tests, and genetic testing. A complete blood count, bone marrow biopsy, and immune function tests can help identify bone marrow failure and immunodeficiency. Telomere length measurement is also an important diagnostic tool, as HHS is associated with shortened telomeres.

Genetic testing is the most definitive way to diagnose HHS. Next-generation sequencing (NGS) technology can analyze the entire coding region of the DKC1 gene and identify mutations that cause HHS. NGS is a high-throughput, cost-effective method that can detect multiple mutations in a single test.

Cost of DKC1 Gene Hoyeraal-Hreidarsson Syndrome NGS Genetic DNA Test

The cost of the DKC1 Gene Hoyeraal-Hreidarsson Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the laboratory and the type of test performed. Some laboratories may offer additional tests, such as telomere length measurement, at an additional cost.

Conclusion

Hoyeraal-Hreidarsson syndrome is a rare genetic disorder caused by mutations in the DKC1 gene. It affects multiple systems of the body and can have life-threatening complications. The diagnosis of HHS is based on a combination of clinical features, laboratory tests, and genetic testing. NGS technology is a cost-effective and efficient method for identifying mutations in the DKC1 gene. The cost of the DKC1 Gene Hoyeraal-Hreidarsson Syndrome NGS Genetic DNA Test in India is INR 20,000.

Early diagnosis and management of HHS can improve the outcome and quality of life of affected individuals. If you or someone you know has symptoms of HHS, consult a genetic counselor or healthcare provider for further evaluation and testing.

Hoyeraal-Hreidarsson syndrome (HHS) is a rare and severe multisystem disorder that affects various parts of the body, including the bone marrow, immune system, and nervous system. It is considered to be a more severe variant of dyskeratosis congenita (DC), a condition characterized by skin, nail, and mucous membrane abnormalities.

Hoyeraal-Hreidarsson syndrome is caused by mutations in several genes, including the DKC1 gene, as well as other genes involved in maintaining telomere length and function. Telomeres are protective caps at the ends of chromosomes that play a critical role in maintaining genomic stability.

The DKC1 gene is one of the genes associated with Hoyeraal-Hreidarsson syndrome. Mutations in this gene, along with mutations in other related genes, can lead to the various symptoms and complications associated with the syndrome.

An NGS (Next-Generation Sequencing) Genetic DNA Test can analyze the DKC1 gene and other relevant genes for mutations that are known to be associated with Hoyeraal-Hreidarsson syndrome. Identifying these mutations can help with the diagnosis and management of the condition.

If you suspect that you or someone you know might have Hoyeraal-Hreidarsson syndrome or if there is a family history of the condition, consulting with a medical geneticist or a genetic counselor is advisable. They can guide you through the process of genetic testing, explain the implications of the results, and provide information about the condition, management, and support resources. Keep in mind that genetic testing results are best interpreted in consultation with qualified healthcare professionals.