Genetic Testing in India
Genetic testing is a kind of diagnostic examination that recognises chromosome, gene or protein modifications. The test results can either confirm or rule out the suspected gene condition or assist in determining the risk of a person developing or transferring a genetic disorder.
ADVANTAGES/BENEFITS:
Genetic research can have a significant effect on a gene mutation. The test results can enable people to make better decisions about the management of their medical care and to provide a sense of satisfaction from confusion. For one, the requirement for additional checks and diagnostic procedures may be removed by a bad result.
Genetic Investigation Services
Genetic testing helps estimate your chance of developing cancer in your lifetime. It does this by searching for specific changes in your genes, chromosomes, or proteins. These changes are called mutations.
The advent of ‘Next Generation Sequencing’ technology has made the detection of these diseases possible at a much quicker rate. An accurate diagnosis which earlier took years is now possible in 4-8 weeks via Next Generation Sequencing. Specific NGS techniques such as Whole Exome Sequencing, Clinical Exome and Whole Genome Sequencing (WGS), has resulted in an ever-increasing number of RD genes being diagnosed at a much earlier stage.
Neuromuscular disorders (NMDs) include pathology of muscle, neuromuscular junction, nerves, and neurons in the spinal cord, brainstem and cerebrum, making this a very heterogeneous category of neurologic disorders. Presentations also vary from as early as in utero to advanced age. A feature commonly shared amongst NMDs is genetic origin based on Mendelian gene mutations.
Covers ~21000 protein-coding genes of the human exome; average coverage of 70-100X of all coding regions. Extended clinical reports are available. Pre-test counseling recommended.
Covering 95% to 98% of the genome, WGS offers a comprehensive view of your entire genome. Extended clinical reports are available for multigenic, complex genetic conditions and traits.
Whole Exome Sequencing on Illumina platform, for TRIO i.e., proband + parents, 95% of all target basepairs covered, minimum depth of 10X at 70-100xaverage coverage
MATCHMYGENO ME (Comprehensive COUPLE carrier screening on Whole Exome)
CYP21A2, FSHR, LHCGR, BMP15, LHB, ZP1, FMR1
AIRE, AMH, AMHR2, KAL1, AR, ARL6, ARX, ATRX, AURKC, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CATSPER1, CBX2, CFTR, CHD7, CYP11A1, CYP17A1, CYP19A1, DHH, DMRT1, DNAH1, FGF8, FGFR1, FGFR2, FOXL2, FSHB, FSHR, GALNTL5, GATA4, GNRH1, GNRHR, HESX1, HFE, HS6ST1, HSD17B3, KISS1, KISS1R, LEP, LEPR, LHCGR, LHX3, LHX4, MAMLD1, MAP3K1, MKKS, NPAS2, NR0B1, NR5A1,NSMF, PCSK1, PICK1, POR, PROK2, PROKR2, PROP1, RSPO1, SEMA3A, SLC26A8, SOX2, SOX3, SOX9, SPATA16, SRD5A2, SRY, STAR, TAC3, TACR3, TEX11, TRIM32, TTC8, USP9Y, WDR11, WNT4, WT1, WWOX, RSPH3, DNAAF1, DNAI1, HSD17B3, HLADQA1, CTNS, PTPN11, SPATA16, FOXL2, TEX11, HFE2, DNAAF3, H6PD, CEP19, ZP1, CCNO,NR3C1, GBA2, SEPT12, HEATR2, LRRC6, KLHL10, NANOS1, RSPH1, DNAAF4 (DYX1C1), ZMYND10, PRLR, PLCZ1, DNAH1, SYCP3, DPY19L2, TAF4B, ZMYND15, SYCE1, TEX14, USP9Y, MGP, BUB1B, COX7B, UBA1, NAA10, KIAA0586, F2, HTR1A, SYCP3, DNAAF3 CATSPER2, USP26, HLA-DQB1, INSL3, PRM1, PRM2, PRDM9, DDX25, ESR2, UTP14C, DNAI1, DNAH5, DNAH11, NLRP14, RBMXL2, RXFP2, TEKT2
AR, CATSPER1, CFTR, FSHR, LHCGR
BARD1, BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MRE11A, MSH2, MSH6, NBN, PMS1, PMS2, RAD50, RAD51C, RAD51D, STK11, TP53
EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN
Illumina 750K genechip - 750000 CNV/200000 genotypable probes
Illumina 750K genechip - 750000 CNV/200000 genotypable probes
Multiplex ligation-dependant probe amplification is a fragment analysis based PCR method to detect CNVs in DMD (Duchenne Muscular Dystrophy), Xp21.2
MLPA for FragileX
Karyotyping is a staining technique used to analyze the chromosomes for deletions, duplications, inversions & translocations commonly screened for genetic abnormalities
Cover 13, 18 and 21 Chromosomes for deletions, duplications.
Non-Invasive Prenatal Testing is performed to find the abnormalities ofthe FETUS with maternal blood by screening T13,T18 & T21 with other chromosomes
Maternal Cell Contamination
Cell Culture
DNA isolation from blood
DNA isolation from saliva
HIV testing is performed by Real-time PCR to detect Human Immuno Virus Infection
Covid-19 RT PCR is a multiplexing PCR to detect Nucleic Acid coding regions in Sars-Cov2 infection
Carrier testing for autosomal recessive metabolic diseases which can affect offspring/newborns. Next Generation Sequencing (NGS) of genes associated with Inborn Errors of Metabolism (IEM) on Clinical Exome
Targeted single exon mutation analysis - Sanger
what is whole genome sequencing ?
Whole-genome sequencing has become a valuable method for genomics research due to rapidly falling sequence procedure costs and the capacity of today's sequencers to yield vast quantities of data. WGS is a process for examining whole genomes. Classification of genetic illnesses, characterising the genes that cause cancer development, and monitoring disease outbreaks have all benefited from genomic knowledge.
