Explore our tests
Testing for Rare Diseases
There are approximately 6000-8000 rare diseases reported in medical literature with about 450 identified and reported in India. Though each disease has a prevalence of less than 1 in 1000, together, collectively they affect 70 million people in India. A substantial fraction of these are children.
Several of these diseases have a monogenic basis. i.e., they are caused by genomic variants in one of ~4700 genes. Diagnosis involves identification of the precise variant, which can provide closure to long diagnostic odysseys as well as knowledge for family planning, and in some cases, appropriate treatment.
![](/static/34a32eb678783169235d63cc7959604a/70123/Mask-Group-77.jpg)
Testing Details
Our tests sequence the entire exome (the coding regions of all ~20,000 genes) to identify risk causing mutations followed by industry leading data analysis and variant interpretation.
![Coverage](/static/ade882d8caa1f9c9552024ae41537400/9377e/Group-18295.png)
Coverage
The number of times each genomic character is read is an important parameter of test quality. Our tests read each relevant character 100-200 times on average, to ensure accuracy.
![Variant Types](/static/f7df652a18b87ebac31313d5973cbaa2/822df/Group-18293.png)
Variant Types
Because of our exquisite coverage and our long history of bioinformatics, we can call genomic variants that span several hundreds or even thousands of genomic characters very effectively. Our pioneering publication shows that 12% of the variants we called in our first 1000 neurology referrals were copy number variants of the latter type.
![Variant Interpretation](/static/4ba8012a160c14aa0734fcaa99900a73/ddb7a/Group-18294.png)
Variant Interpretation
Our bioinformatics platforms (Strand NGS and Strand Omics) built completely in house have been at work for over a decade to allow accurate identification of the relevant variants. Many tens or hundreds of variants that are found are carefully examined in the light of scientific evidence for their role in cancer risk, using the criteria laid out by guidelines from the American College of Medical Genetics. Those that reach the evidence level of Pathogenic or Likely Pathogenic are reported along with those that carry considerable uncertainty, i.e. Variants of Unknown Significance.
Disorder Categories
- Cardiomyopathies
- Arrhythmias
- Adipose tissue disorders
- Blistering diseases
- Cornification disorders
- Cutaneous vasculature disorders
- Disorders of collagen, elastin, and dermal matrix
- DNA repair disorders with cutaneous features
- Ectodermal dysplasias
- Hair disorders
- Hamartoneoplastic syndromes
- Naevi and other developmental abnormalities
- Nails and nail growth defects
- Pigmentation disorders
- Poikiloderma syndromes
- Premature Aging syndromes
- Bardet-Biedl syndrome
- Choroideremia
- Cone rod dystrophy
- Congenital stationary night blindness
- Corneal dystrophies
- Glaucoma
- Leber congenital amaurosis
- Retinal dysplasia
- Retinitis pigmentosa
- Stargardt disease
- Usher syndrome
- Vitelliform macular dystrophy
- Familial Exudative Vitreoretinopathy
- Disorders of amino acid and peptide metabolism
- Disorders of carbohydrate metabolism
- Disorders of purine, pyrimidine, and nucleotide metabolism
- Disorders of sterol metabolism
- Disorders of porphyrin and heme metabolism
- Disorders of lipid and lipoprotein metabolism
- Congenital disorders of glycosylation
- Lysosomal Storage disorders
- Peroxisomal Disorders
- Disorders of Neurotransmitter Metabolism
- Disorders of Vitamin and Cofactor Metabolism
- Disorders of metabolism of trace elements and metals
- Mitochondrial respiratory chain disorders
- Disorders of fatty acid and energy metabolism
- Mitochondrial membrane transport disorders
- Iron-sulfur (Fe-S) cluster biogenesis
- Disorders of creatinine metabolism
- Amino acid disorders
- Critical congenital heart disease
- Endocrine disorders
- Fatty acid oxidation disorders
- Galactosemias
- Hearing loss
- Immune disorders
- Lysosomal storage disorders
- Organic acid disorders
- Other genetic disorders
- Autism spectrum disorders
- Intellectual disability (ID)
- Leukodystrophies
- Epilepsy
- Microcephaly
- Macrocephaly
- Congenital brain malformations
- Amyotrophic Lateral Sclerosis
- Ataxia
- Congenital Myopathy
- Dystonia
- Muscular Dystrophies
- Neuropathies
- Spastic Paraplegia
- Abnormal mineralization disorders
- Ciliopathies with major skeletal involvement
- Defects in joint formation & synostoses
- Dysostosis
- Ectrodactyly with/without other manifestations
- Genetic inflammatory/Rheumatoid-like steoarthropathies
- Limb hypoplasia reduction defects
- Osteogenesis imperfecta (OI) and decreased bone density
- Osteolysis related disorders
- Overgrowth syndromes with skeletal involvement
- Polydactyly-syndactyly-triphalangism
- Skeletal dysplasia
- Alport syndrome
- Bartter syndrome
- Defects in calcium homeostasis
- Defects in magnesium homeostasis
- Defects in renal phosphate handling
- Defects of renal handling of amino acids
- Fanconi syndrome
- Focal segmental glomerulosclerosis
- Hyperuricemic nephropathy
- Meckel syndrome
- Medullary cystic kidney disease
- Nephrogenic diabetes insipidus
- Nephrolithiasis
- Nephronophthisis
- Nephrotic syndrome
- Polycystic kidney disease
- Primary renal uricosuria
- Pseudohypoaldosteronism
- Renal diseases of glucose handling
- Renal hyperuricemia
- Renal tubular acidosis
- Renal tubular dysgenesis
- Thin basement membrane nephropathy
- Ureteral Disorder
- Zellweger syndrome
- Breast and ovarian cancer
- Colorectal cancer
- Endocrine cancer
- Gynecological cancer
- Hereditary cancer
- Lynch syndrome
- Nervous system cancer
- Prostate cancer
- Renal cancer
- Skin cancer/Melanoma
Rare Disease Detection by Life Stages
Our tests sequence all coding regions of the above genes to identify all potential genomic variants in these genes. We have the experience of having run tens of thousands of these tests. We were the first to publish experiences from large scale testing in India along with leading oncologists.
![](/static/fbaa4a91767c5a7a6b2d41fc0ee0a8b7/03108/Mask-Group-72-1.png)
Pre-conception Stage
Before conceiving, it is useful to know if the parents are carriers for any recessive disorders that may manifest as disease in the progeny. The parents themselves may be perfectly healthy even if they are carriers. For the so-called autosomal recessive diseases, both parents being healthy carriers implies that each child has a 25% chance of being affected. For the so-called x-linked disorders, the healthy mother being a carrier implies that each male child has a 50% chance of being affected. Our carrier screening test can help identify if you and/or your spouse are carriers for key genomic variants that might affect your children, in which case, your doctor will be able to suggest various measures to control that risk.
Carrier risk screening genetic test can help determine any risk of AR or XR disorders, including the most prevalent ones such as Spinal Muscular Atrophy, Beta Thalassemia Sickle Cell Anaemia, Cystic Fibrosis, and Duchenne Muscular Dystrophy.
Pre Natal Stage
Once the baby is conceived there are a variety of genetic tests conducted on the DNA derived from the foetus to help detect any of the common disorders, related to l changes (additions, deletions, substitutions) in the chromosomes.
Our Mother Child Contamination (MCC) test helps differentiate between mother and child cells. Thereafter various chromosome-focussed genetic tests can be conducted to detect common disorders such as Trisomy and Aneuploidy.
New Born, Childhood, and Later
There are thousands of other rare inherited disorders other than the ones detected by carrier risk screening or the common ones checked in the pre-natal stage. A pediatric specialist or a clinical geneticist will be able to identify key clinical features and prescribe various genetic tests if appropriate.
Most commonly, these tests will be our Clinical Exome or Whole Exome tests that sequence ~4500-20000 of genes covering all rare monogenic disorders and identify key causative genomic variants.
Test Portfolio
Test Name
No.of genes
Select
Whole Exome Trio Test
20000
Whole Exome High Depth
20000
Whole Genome
20000
Couple Carrier Risk Screening
20000
Couple Carrier Screening 2000 gene
2000
Couple Carrier Screening Comprehensive
20000
Couple Carrier Whole Exome Screening Test
20000
SMA by Sanger
1
MLPA CYP21A2
1
MLPA DMD
1
MLPA SMA
1
We provide genetic counselling to help you understand your test reports
![](/static/4dc70884f02a3438942923bf1e53212f/eaf7f/Group-18239.png)
Our certified genetic counselors will guide you through the test details and possible outcomes based on your family history.
![](/static/e84b8b83bcfcde002f2734a16b2dc06e/9e0f2/Group-18240.png)
Our genetic counselors will walk you through your genetic test report and explain the implications of your results and further plan of action