Our algorithm has been designed to analyze genetic variants which have a strong correlation with the Indian population. Most studies were initially conducted in Caucasians- however, follow-up studies have validated their association with Indians. Examples include type 2 diabetes, obesity, coronary heart disease, etc.
Large panels such as Genomepatri and Genomepatri-Cardio/Onco/Brain/Gynaec are performed on microarrays. Smaller tests such as Sugargene and Slimgene are run on Fluidigm.
Do you get better data with blood samples, compared to saliva/swabs? How has the team addressed challenges in the Laboratory?
For such cases, we recommend a pre-test counseling session, to identify the right testing strategy. While he/she might be interested in Genomepatri, our counselor might recommend targeted mutation analysis (for said disease) followed by screening of unaffected family members. The counselor's decision is based on the scope of the prognostic panels vs clinical indications.
Data interpretation and analysis (for the final reporting of results) is an essential step, and we focused on getting this part right. Given the amount of SNP-information unearthed from Genome-Wide Association Studies for complex conditions, our biggest task was to develop a risk estimation method which is robust. After thorough data curation, only high-risk SNPs are selected for their association with a given condition, analyzed and reported. Every SNP's individual odds for disease, allelic frequencies and distribution is considered.
Autism is a complex conditions with many genes underlying its development. Currently, the cost of WGS might be out of affordable range for some. For heterogenous conditions like ASDs (Autism Spectrum Disorders) or epilepsy, we recommend WES (Whole Exome Sequencing). However, if Copy Number Variation (CNV) analysis is required, array cGH can be performed, in conjunction with WES. Testing of other family members (based on the results) is also recommended.
We offer single-gene and multi-gene panels for most of the genetic diseases (including rare syndromes) such as Leigh syndrome, Usher's syndrome, cystic fibrosis, retinitis pigmentosa, to name a few. All reports follow ACMG guidelines and annotations by well-known databases such as ClinVar. Our USP is the pre- and post-test genetic counseling service, which is mandatory for all diagnostics, keeping in mind the clinical implication of test results.
No. Single-gene and mutation analysis tests are done by PCR and Sanger sequencing. Multi-gene panels (including BRCA test), whole exome and whole genome, BabyMap are performed on high-throughput, gold-standard Next Generation Sequencers (NGS).
BabyMap covers >70 inherited conditions and metabolic diseases, which affect a significant proportion of Indian newborns. You may be familiar with cases of phenylketonuria, MCADD, enzyme deficiencies, amino acid disorders, etc. While traditional NewBorn Screening (NBS) tests for these diseases biochemically, Babymap is the ideal supplemental method to confirm molecular diagnosis, even before symptoms appear (BabyMap NBS) or before the birth or planning of a baby (BabyMap Carrier). About 80% of these diseases are manageable via nutritional intervention, which makes early screening and detection even more important, in a gynaecological/child care ward.
No, it does not. The test is targeted sequencing for genetic mutations only. Babymap covers coding regions (exons) of the genes responsible for different metabolic diseases, along with flanking regions near genes of interest.
As per standard protocol, report(s) are shared with the ordering physician. Genetic counseling is also provided by Mapmygenome. For Sanger confirmation of reported variants, additional clinical information might be requested from the physician.