Positive Control for Custom Sequencing

Clinical Use

Use

The Positive Control Sample for Custom Sequencing serves as an essential test to validate the detection capabilities of the genetic testing assay for familial sequence variants. It ensures that the assay demonstrates high sensitivity and specificity, accurately identifying variants that are known to exist in a tested family member. As this is a control sample, no formal report is issued for it; however, its use will be mentioned in the testing results of the related family member's test. This is critical for confirming that testing protocols and methodologies are functioning properly before the definitive analysis of other family members' genetic material.

Special Instructions

This positive control (6989) is exclusively intended for use in conjunction with test codes 1522 (Custom Sequence Analysis – Prenatal) and 1580 (Custom Family Sequence Analysis – Familial Mutation/Variant Analysis). It is crucial that the testing order and sample for 6989 are received simultaneously with the orders for test codes 1522 or 1580. It cannot be ordered as a standalone test. Additionally, it is important to note that positive controls required for other test codes must be processed under a different code to maintain correct sequencing and testing standards.

Limitations

This test cannot stand alone, and it is only valid in conjunction with approved test codes for specific familial situations. The use of a control sample does not guarantee that other familial mutations will be detected unless appropriate criteria have been met. Furthermore, no report is issued for the positive control; thus, any potential issues with the control itself are not communicated unless requested specifically by a healthcare provider. It’s also imperative to ensure specimen quality and timely shipping to validate the control's effectiveness within the prescribed timeframe.

Test Details