Test Catalog

Test ID: FHRGP    
Familial Hypercholesterolemia and Related Disorders Multi-Gene Panel, Next-Generation Sequencing, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirming a clinical diagnosis of familial hypercholesterolemia or sitosterolemia


Cascade screening of at-risk family members and early diagnosis, treatment, and dietary modifications


Ascertaining carrier status of family members of individuals diagnosed with familial hypercholesterolemia for genetic counseling purposes

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing (NGS) and supplemental Sanger sequencing to evaluate for variants in the ABCG5, ABCG8, APOB, LDLR, LDLRAP1, and PCSK9 genes. Additionally, NGS is used to test for the presence of large deletions and duplications in a subset of genes.


Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing or qPCR

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Hypercholesterolemia Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

Familial Hypercholesterolemia (FH)
Next Gen Sequencing Test