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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
Pathogenic, Non Pathogenic, VOUS or Benign