Test Directory
Browse our comprehensive catalog of genetic tests
Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm Dissection & Arterial tortuosity syndrome (70 Genes)
This panel analyses key genes associated with heritable connective tissue and aortopathy disorders, including Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm/Dissection, and Arterial Tortuosity Syndrome. Pathogenic variants in these genes can predispose individuals to vascular fragility, arterial aneurysm and dissection, and systemic connective tissue manifestations. Testing supports early diagnosis, risk stratification, and family screening, enabling timely surveillance and management of cardiovascular complications.
CardioVascular GeneticsFabry disease
Fabry disease is a rare, inherited lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A. This results in the accumulation of globotriaosylceramide (Gb3) in various tissues, causing progressive multi-organ damage.
CardioVascular GeneticsMarfan syndrome and related disorders (39 Genes)
Our Marfan Syndrome and Related Disorders Panel is a comprehensive genetic test designed to identify inherited variants associated with connective tissue disorders, including Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, familial thoracic aortic aneurysm and dissection (FTAAD), and other related conditions. This panel analyzes 39 clinically relevant genes, including FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, ACTA2, MYH11, COL3A1, COL5A1, and COL5A2, which are associated with disorders affecting the cardiovascular system, skeleton, skin, eyes, and connective tissues.
CardioVascular GeneticsKaryotyping - Peripheral Blood
Karyotyping is a laboratory technique used to analyze and visualize an individual's chromosomes, which are the rod-shaped structures containing genetic information within the cell nucleus. Humans typically have 46 chromosomes organized into 23 pairs, consisting of 22 pairs of autosomes and one pair of sex chromosomes (X and Y). Karyotyping is particularly valuable for diagnosing chromosomal abnormalities, which can arise from errors in cell division, such as nondisjunction. The procedure involves collecting a sample, often from white blood cells, stimulating cell division, and then halting the process to prepare the chromosomes for visualization. The chromosomes are stained, photographed, and arranged into pairs for analysis. Common disorders identified through karyotyping include Down syndrome, Klinefelter syndrome, and Turner syndrome. Advances in technology have enhanced karyotyping methods, including the development of digital karyotyping and fluorescence techniques, which improve the ability to detect chromosomal abnormalities. Karyotyping remains an essential tool in genetics, fertility treatments, and prenatal diagnostics.
Chromosome Studies