Genetic Testing

GENETIC TESTING

We are all beautiful creations! But what makes you unique is your genes, it is the beautiful concoction of mutations entwined in your DNA. However, it is important to understand that mutations are two folded, that is, they can be beneficial and/or harmful. Hence, a proper analysis of your genes becomes of paramount importance. Genetic testing looks for alterations in your DNA, evaluates them, and weaves a complete understanding of your health and well-being.

Variant Genetics provides genetic testing for pregnant women, newborns, children and, people of all ages. Diagnosis of genetic diseases is done in 3 steps:

• Preliminary examination (by a clinician),
• Genetic counselling and
• A Genetic test.

At the time of your appointment, our team member (a genetic counsellor or clinical geneticist) will review your medical and family history and guide you for tests. We offer you a wide spectrum of tests tailored for your diverse needs.

• Diagnostic Testing: is used to identify or rule out a specific genetic or chromosomal condition in person if symptoms of a disease that may be caused by genetic alterations (Genetic Variants) are present
• Newborn Screening: is used for checking certain genetic disorders that can be diagnosed and treated for early disease management
• Prenatal Diagnosis: is used to diagnose a genetic disease in developing fetus (from blood, amniocentesis, chorionic villus sample)
• Preimplantation Testing: is used only in IVF (in-vitro fertilization) to check genetic disease in the embryo before implantation
• Carrier Testing: to identify the carrier status of a person for certain genetic conditions.
• Pre-symptomatic Testing: checks certain genetic alterations that are associated with disease, in case of a person with a family history of a genetic disease
• Predictive Testing: tells a healthy person with or without a family history, the probability of development of certain disease

(I) ClinoVar

Genetic Testing of Inherited Diseases

While mutations can make or break you, make a clean break with ClinoVar! ClinoVar from Variant Genetics is a genetic test to stop, that assures accurate identification of the the root cause of a genetic disease that directly influences patient upshots and disease management. We aim at applying scientific-driven knowledge for finding genetic variations associated with health and to appraise one towards making conscious efforts for a healthy and hearty life.

Genetic disorders can be chromosomal disorders or single-gene disorders. In humans, there are 23 pairs of chromosomes, which are made up of DNA that condenses and finally forms several genes. When a disorder results from alterations in the entire chromosome, it results in chromosomal abnormalities. Examples for this include Down syndrome where three copies[trisomy] of the 21st chromosome are seen[ duplication of a chromosome], or Cri-du-chat syndrome where deletion is seen in the 5th chromosome. On the other hand, when a mutation occurs at a particular location in a single gene, it results in single-gene disorders. Cystic fibrosis and sickle cell anemia are some of the single-gene disorders.

Out of the 23 pairs of chromosomes, 22 pairs are known as autosomal chromosomes and the last pair is known as sex-linked chromosomes. The 23rd pair can be XX, as in females, or XY, as in males. Apart from this, mutations can also be classified as dominant mutations where only one copy of the mutation is sufficient to cause a disorder or recessive mutations where two copies of the mutation are required for the disease to be expressed. Based on this classification, there are four main ways in which one inherits genetic disorders:

Autosomal dominant: A genetic disorder that results from a dominant mutation seen on autosomal chromosomes, where either of the parents expresses the disease. The mutation is passed on to the next generation invariably and 50-100% of the progeny are affected.

EXAMPLES: Huntington’s disease

Autosomal recessive: A genetic disorder that results from a recessive mutation seen on autosomal chromosomes, where in order to pass it to the next generation both the parents have to be carriers of the mutation. 25-50% of the progeny are affected.

EXAMPLES: Cystic fibrosis, Phenylketonuria (PKU)

X linked dominant: A genetic disorder that results from a dominant mutation on the X chromosome. 50-100% of the progeny are affected.

EXAMPLES: Vitamin D-resistant rickets

X linked recessive: A genetic disorder that results from a recessive mutation on the X chromosome. Males are more frequently affected. 25-50% of the progeny are affected.

EXAMPLES: Hemophilia, DMD

Tests @ ClinoVar

(II) CytoVar