Symptoms and Testing information for MMP1 Gene Epidermolysis bullosa dystrophica autosomal recessive modifier of Genetic Test

Symptoms and Testing information for MMP1 Gene Epidermolysis bullosa dystrophica autosomal recessive modifier of Genetic Test

Epidermolysis bullosa dystrophica (EBD) is a rare genetic disorder that causes the skin to be very fragile and to blister easily. Among the genes associated with this condition, the MMP1 gene has been identified as a significant modifier, especially in its autosomal recessive form. Understanding the symptoms and the genetic aspects of this condition is […]

Symptoms and Testing information for ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia Genetic Test

Symptoms and Testing information for ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia Genetic Test

Epidermolysis Bullosa Junctionalis with Pyloric Atresia (EB-PA) is a rare genetic disorder that presents a considerable challenge to affected individuals and their families. This condition, resulting from mutations in the ITGB4 gene, manifests through a combination of skin blistering and gastrointestinal issues from birth. Understanding the symptoms and the availability of genetic testing can provide […]

Symptoms and Testing information for KRT5 Gene Epidermolysis bullosa simplex Genetic Test

Symptoms and Testing information for KRT5 Gene Epidermolysis bullosa simplex Genetic Test

Epidermolysis bullosa simplex (EBS) is a genetic condition that affects the skin, causing it to be very fragile and to blister easily. This condition is primarily caused by mutations in the KRT5 gene, which plays a crucial role in the production of keratin, a protein that provides strength and resilience to the skin. Understanding the […]

Symptoms and Testing information for COL5A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test

Symptoms and Testing information for COL5A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Among the various types of EDS, Type 4, also known as the vascular type, is one of the most severe and life-threatening forms. This type is primarily caused by mutations in the COL5A1 gene. Understanding […]

Symptoms and Testing information for DKC1 Gene Dyskeratosis Congenita X-Linked Genetic Test

Symptoms and Testing information for DKC1 Gene Dyskeratosis Congenita X-Linked Genetic Test

Dyskeratosis Congenita (DC) is a rare, inherited bone marrow failure syndrome characterized by the triad of reticulated skin pigmentation, nail dystrophy, and oral leukoplakia. Mutations in the DKC1 gene, located on the X chromosome, are known to cause the X-linked form of this disorder. Recognizing the symptoms of DKC1 gene dyskeratosis congenita is crucial for […]

Symptoms and Testing information for PLOD1 Gene Ehlers-Danlos Syndrome Type 6 Genetic Test

Symptoms and Testing information for PLOD1 Gene Ehlers-Danlos Syndrome Type 6 Genetic Test

— Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect connective tissues — primarily skin, joints, and blood vessel walls. EDS is known for causing overly flexible joints and stretchy, fragile skin. Type 6 Ehlers-Danlos Syndrome, also known as Kyphoscoliotic EDS, is caused by mutations in the PLOD1 gene. This specific type is […]

Symptoms and Testing information for HSPG2 Gene Dyssegmental Dysplasia Silverman-Handmaker Type Genetic Test

Symptoms and Testing information for HSPG2 Gene Dyssegmental Dysplasia Silverman-Handmaker Type Genetic Test

Dyssegmental Dysplasia, Silverman-Handmaker type, is a rare genetic disorder that significantly impacts the development of bone and cartilage. This condition is caused by mutations in the HSPG2 gene, which plays a crucial role in the structural integrity and function of the extracellular matrix. Understanding the symptoms associated with this disorder is essential for early diagnosis […]

Symptoms and Testing information for COL1A1 Gene Ehlers-Danlos Syndrome Type 7A Genetic Test

Symptoms and Testing information for COL1A1 Gene Ehlers-Danlos Syndrome Type 7A Genetic Test

Ehlers-Danlos Syndrome (EDS) represents a group of genetic disorders that affect the connective tissues in the body, which provide strength and elasticity to the skin, bones, blood vessels, and other tissues. Among the various types of EDS, Type 7A, also known as Arthrochalasia EDS (aEDS), is caused by mutations in the COL1A1 gene. This specific […]

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