Genetic Panel

Genetic Panel

Genetic panel data like the one produced by 23andMe gives information about a person’s potential health factors. Leucine Rich Bio provides a comprehensive analysis of genetic panel data. At our introductory price of INR 1320 (USD 20), our Genome Health Report provides you and your physician with genetic risk factors. To submit your data please click the link above and follow the instruction listed.



  • We understand the complexities of genomic data and its implication in disease, well being and treatment. Our proprietary analysis platform (AGIS) along with manually curated
    database (LRB-HGVD) with 5000+ diseases and 60000+ variant annotations provide a cutting edge to our interpretation
  • Our clinician friendly report helps in making the complex data look simple.
  • We follow HIPAA guidelines and ensure Physical, Network and Process Security measures are all in place. All our employees are trained for compliant security procedures, policies, risk response and reporting, password use and data protection. We adhere to international Privacy Standards and place utmost security in saving, sharing and accessing of medical and personal information of any individual.

Let us revisit some of the terms, shall we..?

What are single nucleotide polymorphisms (SNPs)?

Single nucleotide polymorphisms, frequently called SNPs (pronounced “snips”), are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA. SNPs can act as biological markers, helping scientists locate genes that are associated with disease. When SNPs occur within a gene or in a regulatory region near a gene, they may play a more direct role in disease by affecting the gene’s function. Researchers have found SNPs that may help predict an individual’s response to certain drugs, susceptibility to environmental factors such as toxins, and risk of developing particular diseases. SNPs can also be used to track the inheritance of disease genes within families.
For example,
An individual with a normal allele "CC" within the gene TCF7L2 (Chromosome 10), has a lower risk of getting Type 2 Diabetes. However, if this normal allele is replaced by "CT" (where T stands of Thymidine nucleotide), his/her risk of getting Type 2 Diabetes increases by 1.4 fold. Further, if the same allele is replaced by "TT", the chances of that individual getting Type 2 Diabetes increases by 2 fold.

What are InDels or Insertion & Deletions?

An insertion/deletion polymorphism, commonly abbreviated “indel,” is a type of genetic variation in which a specific nucleotide sequence is present (insertion) or absent (deletion). While not as common as SNPs, indels are widely spread across the genome. An indel in the coding region of a gene results in a frameshift mutation. Shifting the reading frame and the DNA transcript sequence may now code for an entirely different set of amino acids or result in a premature stop, altering the protein structure and function.
For example,
Cystic fibrosis, one of the most common genetic diseases in humans, is caused by an INDEL polymorphism within the CFTR gene that eliminates a single amino acid. A total of 262 coding INDELs have been identified, with more than half of these coding INDELs (160/262 or 61.1%) found to be in multiples of 3bp. In some of these cases, amino acid(s) were found to be precisely inserted or deleted, while in in other cases, additional amino acid changes have also been altered. The 3 bp in-frame CFTR coding INDEL abolishes gene function and produces cystic fibrosis, while other in-frame INDELs is indicated to have less severe effects on protein function.

What is Pharmacogenomics?

Pharmacogenomics is the study of genetic variations that influence individual response to drugs. It aims to predict how individual genetic variability impacts drug absorption, metabolism and activity. The use of pharmacogenomics data helps in inplementing effective, safe medications and doses that will be tailored to a person's genetic makeup. It is estimated that genetic factors account for 20 to 95 percent of patient variability in response to individual drugs1.
1. Kalow W. Pharmacogenetics in perspective. Drug Metab Dispos. 2001 Apr;29(4 Pt 2):468-70.

Do you know how genetic variants affect health...?



Prevention and management of Cardiovascular disease (CVD), particularly Ischemic Heart Disease and Stroke, present a difficult challenge for health care and public health. Genetic variant studies have shed a light on many CV diseases. Example, Familial defective Apolipoprotein B (APOB) is another form of Familial Hypercholesterolemia in which Low-density lipoprotein (LDL) binds defectively to the LDL receptor, which results in increased circulating Low-density lipoprotein cholesterol (LDLc) levels and premature Atherosclerosis. The molecular defect responsible for familial defective APOB is a single mutation (R3500Q) in the gene encoding APOB, the main apolipoprotein in LDL that binds to the LDL receptor1.



Genetic variation is known to affect food tolerances among human subpopulations and may also influence dietary requirements. Several genes and alleles have been found to affect nutrient utilization. A well-studied polymorphism (Ala222Val) in the Methylenetetrahydrofolate Reductase (MTHFR) gene has been shown to alter folate metabolism quite severely, so that risk is increased for Neural Tube Defects (NTDs)1. Similary Vitamin D receptor polymorphisms have been associated with childhood and adult Asthma2.



The tendency for infection, or developing an Autoimmune disease, varies naturally among people. Genetic studies have linked dozens of DNA changes to Immune disease. Homozygous for a recessive nonsense mutation in Stromal interaction molecule 1 (STIM1) exon 3 (rs397515357) results in a premature termination codon and consequent truncation of the STIM1 protein and defective store-operated entry of Ca2+. loss of function in STIM1, causes a severe defect in T-cell activation and underlies Combined Immunodeficiency Disease1.



Ageing in humans is typified by the decline of physiological functions in various organs and tissues leading to an increased probability of disease and death. Some individuals delay, escape or survive much of this age-related decline and live for long. Shortening of the telomeres at the ends of chromosomes has been associated with age-related disease and mortality. Research has identified a common haplotype of four SNPs in the human Telomerase Reverse Transcriptase (hTERT) gene that is enriched in centenarians and associated with longer telomere length1. It was also shown that centenarians and their offspring maintain longer telomeres compared with controls and that longer telomeres are associated with protection from age-related diseases, better cognitive function and lipid profiles of healthy ageing. The Forkhead Box O3 (FOXO3) transcription factor contains alleles associated with longevity in multiple Asian and European populations2.

Genomic Variants Role In



Transporters are proteins in cell membranes that regulate the passage of molecules, including drugs, into and out of cells. There are major differences in the type and frequency of transporter genetic variations among Caucasians, Asians, Latinos, and African-Americans. Example, It is now known that variations in a genetic locus that codes for ATP Binding Cassette (ABCG2), a membrane transporter protein that regulates the drug’s access to certain areas of the kidney, plays a major role in allopurinol response. Similarly, a transporter called organic cation transporter 1 (OCT1) is crucial to metformin’s absorption into liver cells (hepatocytes) and variations in that protein altered the drug’s effects in studies of both healthy human volunteers and diabetic patients1.



The main routes of drug elimination are metabolism (often in the liver) and renal excretion. Genetic polymorphisms have been identified for many drug-metabolizing enzymes, including the Cytochrome P450 (CYP450) enzymes. Patients who carry variants associated with elevated drug metabolism (ultra-fast metabolizers) can benefit from higher doses in order to achieve therapeutic effects. On the other hand, patients that carry variants resulting in poor drug metabolism are at risk for toxicity and more than twice as likely to display adverse drug effects. The CYP2C9 enzyme is involved in the metabolism of many common drugs such as Glipizide (Glucotrol), Tolbutamide, Losartan (Cozaar), Phenytoin (Dilantin), and warfarin (Coumadin). The phenotypes CYP2C9*2 and CYP2C9*3 are the two most common variations and are associated with reduced enzymatic activity. CYP2C9 is the principal enzyme responsible for the metabolism of S-warfarin. People who are CYP2C9 poor metabolizers have reduced S-warfarin clearance1.



Drug activity can also be affected by genetic variability associated with the biological drug targets. For example, Warfarin targets the Vitamin K epoxide Reductase complex subunit 1 (VKOR1C1) gene product, K-epoxide reductase. This enzyme mediates the production of active Vitamin K, an essential blood clotting factor. Warfarin and other related anticoagulants inhibit K-epoxide reductase activity in order to prevent or treat Thromboembolic events. A commonly occurring VKORC1 variant (1639G>A) potentiates the effects of Warfarin and as a result, a lower starting dose is recommended for these patients1.

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