Targeted Sequencing

Targeted Sequencing (Known single variant analysis)

Order Code: 329805 - for identification of a single known familial pathogenic variant.

CPT Codes: 81479, G0452

Indication:  Carrier Screening; Clinical Diagnosis; Prenatal Diagnosis

Turn Around Time:  21 days

Specimen type: Whole Blood, Amniotic Fluid, Chorionic Villi

Methodology:  Bidirectional sequencing assay will be customized for the known familial mutation.

Other Requirements: Targeted mutation analysis is only available for those genes that our laboratory currently tests for (see test menu).  Please indicate the specific gene and mutation to be tested for and provide any molecular results on relatives previously tested.

 

Targeted Sequencing (Known dual variant analysis)

Order Code: 329862 - for identification of two known familial pathogenic variants.

CPT Codes: 81479, G0452

Indication:  Carrier Screening; Clinical Diagnosis; Prenatal Diagnosis

Turn Around Time:  21 days

Specimen type: Whole Blood, Amniotic Fluid, Chorionic Villi

Methodology:  Bidirectional sequencing assay will be customized for the known familial mutation.

Other Requirements: Targeted mutation analysis is only available for those genes that our laboratory currently tests for (see test menu).  Please indicate the specific gene and mutation to be tested for and provide any molecular results on relatives previously tested.