Familial Hypercholesterolemia/Autosomal Dominant Hypercholesterolemia Genetic Testing Reflex Panel
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
If APOB genotype is negative, LDLSP / Familial Hypercholesterolemia, LDLR Full Gene Sequencing will be performed at an additional charge.
If LDLR full gene sequence is negative, LDLMP / Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis will be performed at an additional charge.
See Familial/Autosomal Dominant Hypercholesterolemia Diagnostic Algorithm in Special Instructions.
Specimen Type Describes the specimen type needed for testing
Whole Blood EDTA
Additional Testing Requirements
Multiple cardiovascular-related gene sequencing tests can be performed on a single specimen after a single extraction. See Multiple Cardiovascular-Related Gene Sequencing Tests in Special Instructions for a list of tests that can be ordered together.
Include physician's name and phone number with the specimen.
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions: Send specimen in original tube.
1. Familial/Autosomal Dominant Hypercholesterolemia Patient Information (T637) is required in Special Instructions
2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Whole Blood EDTA||Ambient (preferred)|