ClinoVar

ClinoVar

Genetic Testing of Inherited Diseases

While mutations can make or break you, make a clean break with ClinoVar! ClinoVar from Variant Genetics is genetic test intoto stop, that assures accurate identification of 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 in health and to apprise 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 a 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 anaemia 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 are 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 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 X chromosome. Males are more frequently affected. 25-50% of the progeny are affected.
EXAMPLES: Hemophilia, DMD

ClinoVar offers you an array of genetic tests to pick and choose from:

Tests @ ClinoVar
  • Alpha Thalassemia
  • Beta Thalassemia
  • Sickle Cell Anemia
  • Hemoglobin E disease
  • Hemophilia A
  • Duchenne Muscular Dystrophy
  • Becker Muscular Dystrophy
  • Spinal Muscular Atrophy
  • Myotonic Dystrophy
  • Spino Bulbar Muscular Atrophy (SBMA)
  • Spinocerebellar Ataxia
  • Huntington Disease
  • Fragile X syndrome
  • Fredrich Ataxia
  • Dentatorubral Pallido Luysian Atrophy (DRPLA)
  • LHON
  • Leigh Syndrome
  • MELAS
  • Non-Syndromic Hearing Loss (NSHL)
  • Cystic Fibrosis
  • Chronic Pancreatitis
  • Glucose 6 Phosphate Dehydrogenase Deficiency
  • Polycythaemia Vera
  • Achondroplasia
  • Gilbert Syndrome
  • LGMD2A
  • SRY gene deletion
  • MTHFR
  • Factor V
  • Prothrombin
  • Factor II
  • Hereditary Haemochromatosis
Why you should pick Variant Genetics
  • Expert team of Medical Genetics Scientists
  • Genetic Counselling Facility
  • No hassle testing
  • Use of latest technology
  • Real time consultation and updates
  • Highly scalable – flexible number of samples
  • Competitive Prices
  • Competitive TAT
  • Unparalleled customer support
Samples

* Blood * Cheek Swab * Saliva * Amniotic Fluid * Chorionic Villus

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