Whole Exome sequencing

Confronting the diagnostic challenge with whole exome sequencing is the best choice when you need a fast and cost-effective one-step solution to complete the diagnostic process of complex and unsolved cases.

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: MGM274

Technique: Next Generation Sequencing

Sample: Submit 10 mL (5 mL min.) Whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form.

Transportation Temperature: 2-8℃

Reported on: 30th Working Day by 7:00 p.m.

Whole Exome sequencing

Details

Description

Precaution

NRS. 40000 NRS. 42000

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