Whole Exome Sequencing(WES) + Mitochondrial Genome Sequencing by Rapid – COUPLE
Test Name
Whole Exome Sequencing(WES) + Mitochondrial Genome Sequencing by Rapid – COUPLE
Home Collection, Lab Visit
Test Code
GEN0648
Test Components/ Genes/ Parameters
WES + MGS Rapid
Sample Report
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Test Information
TAT DETAILS
15 Days
PRE-TEST INSTRUCTIONS
Clinical History of Patient
CLINICAL UTILITY
sequences the complete coding region of the genome + Mitochondrial genome
SPECIMEN STABILITY
NA
METHODOLOGY
Next Generation Sequencing
STORAGE TEMPERATURE
NA
SPECIMEN TYPE
Amniotic Fluid/ Chorionic Villus Sample/Peripheral Venous Blood/Cord blood,/Extracted DNA/Dry Blood Spot
Frequently Asked Questions
identify the molecular basis of a genetic disorder in couples with a genetically heterogeneous disease and/or an atypical presentation of a genetic disorder
examine all the coding regions and splice junctions of the genome + Mitochondrial genome
Next Generation Sequencing
Pathogenic, Non Pathogenic, VOUS or Benign