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.

Highlights

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.

Yes

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

ABCG5
ABCG8
APOB
Familial Hypercholesterolemia (FH)
LDLR
LDLRAP1
PCSK9
Sitosterolemia
Next Gen Sequencing Test