Genome-wide Sequencing Tests
Genome wide sequencing is a broad search for gene variants or mutations across the genome for identification of wide range of conditions with unclear clinical presentation. About 6,800 inherited disorders known today are caused by genetic variants on human genome of 3.3Gb size, comprising 3 billion base pairs, 22,000 coding genes and 1,80,000 exons. GeneTech uses latest technological advancements such as NGS and high speed data processing bio-informatic tools to sequence the human genome, identify and interpret variants for diagnosis and other medical applications including treatment.
GeneTech’s Genome-Wide Sequencing Panels
|S.No||Test name||TAT (Days)|
|1||GeneXFocus – Focussed Exome Sequencing||15|
|2||Duo GeneXFocus – Focussed Exome Sequencing||15|
|3||Trio GeneXFocus – Focussed Exome Sequencing||15|
|4||GeneXAll – Whole Exome Sequencing||30|
|5||GeneAll – Whole Genome Sequencing||30|
GeneX-Focus – Focussed Exome Sequencing:
Diagnostic yield of Focussed Exome Sequencing is >30% in otherwise undiagnosed cases. GeneXFocus enables sequencing of exons in 6110 disease-associated genes. The clinically relevant genes listed in HGMD, OMIM and ClinVar are covered with 98% at 20x by Next Generation Sequencing. Our Bio-informatics pathways ensure highly sensitive and accurate variant calling resulting in faster case interpretation. The test can be performed on affected individual (Proband GeneXFocus) or on couples suspecting carrier status (DUO GeneXFocus or for the proband and parents together (TRIO GeneXFocus).
GeneX-All – Whole Exome Sequencing:
GeneXAll sequences exons of all the 22,000 coding genes covering 1/6th of whole genome. It enables identification of functional variants associated with wide-range of diseases and disorders specially in cases with no clinical diagnosis.
Whole Genome Sequencing: Whole genome sequencing will enable identification of unknown mutations on genes not yet associated with a clinical condition, identify predisposition, use data for personalized therapies.
Blood – 3ml in PURPLE TOP (EDTA) Vacutainer
Amniotic Fluid – 20 to 30ml in Sterile Centrifuge Tube
CVS/POC – Tissue in normal saline in sterile container
Transport within 48 hrs at room temperature.