Genetic Diseases
TBG Biotechnology Corp. (TBG) is focused on the development of molecular diagnostics for inherited genetic diseases. These include Noninvasive Prenatal Testing (NIPT), Thalassemia, Sickle cell anemia, Spinal muscular atrophy (SMA), and Fragile X Syndrome. Gene platforms used include Real Time PCR (qPCR), Next Generation Sequencing (NGS) using Illumina Sequencer and Third Generation Sequencing (TGS) using Oxford Nanopore Sequencer.
Please contact us for more information about these tests.
Thalassemia
qPCR and TGS
Thalassemias are characterized by inherited defective hemoglobin synthesis leading to microcytic, hemolytic anemias. The clinical heterogeneity ranges from asymptomatic to very severe forms requiring regular blood transfusions.
Sickle Cell Anemia
qPCR and TGS
A sickle cell test is a blood test that checks for abnormal red blood cells called sickle cells. These can cause sickle cell disease or sickle cell trait.
Sickle cell disease is an inherited disorder. It affects a protein in your red blood cells that carries oxygen to your tissues. The protein is called hemoglobin.
Spinal Muscular Atrophy
qPCR and TGS
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. It may also appear later in life and then have a milder course of the disease.
Fragile X Syndrome
qPCR and TGS
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder. The average IQ in males with FXS is under 55, while affected females tend to be in the borderline to normal range, typically around 70–85. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles.
NIPT
NGS and TGS
The Noninvasive Prenatal Testing (NIPT) can be used to evaluate the aneuploidy of fetal chromosomes. This plasma cell-free prep kit uses universal primers to construct a library for Next Generation Sequencing.