Whole Exome + Whole Mitochondrial Genome Sequencing(Combo test)

to examine all the coding regions and splice junctions of the genome

Details

This test is useful for the genetic analysis when patient presents with mutations in several genes which may have similar clinical presentation eg. neuropathies, ataxia, muscular disorders, skin disorders & thrombocytopenia. It is also useful when phenotype is atypical or combination of symptoms does not provide a definite diagnosis. This test covers whole exome and whole mitochondrial genome.

Test Code: MGM1722

Technique: Next Generation Sequencing (NGS)

Sample: Submit 10 mL (5 mL min.) Whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE

Transportation Temperature: 2-8℃

Sample Collection Instruction: Genetic history and doctor’s prescription is mandatory. Duly filled Whole Exome Sequencing Consent Form.

Reported on: 28th Working Day by 7:00 p.m.