- No FAQs found
- ABL Kinase Domain Mutation in CML, Cell-based
- ABO Group and Rh Type
- Acid-Fast Bacillus (AFB) Identification, Sequencing and Stain, Paraffin Block
- ADAMTS13 Activity with Reflex to ADAMTS13 Inhibitor
- Alcohol Metabolites, Quantitative, Urine
- Alpha-Globin Common Mutation Analysis
- Alpha-Globin Gene Deletion or Duplication
- Alpha-Globin Gene Sequencing
- Anti-Müllerian Hormone AssessR™
- Anti-PF4 and Serotonin Release Assay (SRA) for Diagnosing Heparin-induced Thrombocytopenia/Thrombosis (HIT/HITT)
- Antiphospholipid Antibodies
- ASCVD Risk Panel with Score
- Autoimmune Epilepsy Evaluation
- Autoimmune Diseases, Tests for
- Bordetella pertussis toxin (PT) antibody
- B-cell and T-cell Clonality Assays by PCR
- B-Type Natriuretic Peptide (BNP)
- BCR-ABL1 Gene Rearrangement, Quantitative PCR
- Beta-Globin Complete
- Biotin: Interference with Laboratory Assays
- BRCAvantage®, Ashkenazi Jewish Screen
- BRCAvantage®, Rearrangements
- BRCAvantage™, Comprehensive
- BRCAvantage™, Single Site
- CDH1 Sequencing and Deletion/Duplication
- Clostridium difficile Diagnostic Testing
- C1 Inhibitor, Protein and Functional Tests
- Calreticulin (CALR) Mutation Analysis
- Carbapenem Resistant Enterobacteriaceae Culture Screen
- Cardio IQ Lipoprotein Fractionation, Ion Mobility
- CardioIQ® Insulin Resistance Panel with Score
- Cervical Cancer, TERC, FISH
- CFvantage® Cystic Fibrosis Expanded Screen
- Chlamydia trachomatis, TMA
- Chlamydia trachomatis/Neisseria gonorrhoeae RNA, TMA
- Chromosomal Microarray, POC, ClariSure®, Oligo-SNP
- Chromosomal Microarray, Postnatal, ClariSure® Oligo-SNP
- Chromosome Analysis and AFP with Reflex to AChE, Fetal Hgb, Amniotic Fluid
- Chromosome Analysis, Amniotic Fluid
- Chromosome Analysis, Blood
- Chromosome Analysis, Blood with Reflex to Postnatal, ClariSure® Oligo-SNP Array
- Chromosome Analysis, Chorionic Villus Sample
- Chromosome Analysis, High Resolution
- Chromosome Analysis, High Resolution with Reflex to Postnatal, ClariSure® Oligo-SNP Array
- Chromosome Analysis, Mosaicism
- Chromosome Analysis, Neonatal Blood
- Chromosome Analysis, Sister Chromatid Exchange
- Chromosome Analysis, Tissue
- Chromosome DEB Assay for Fanconi anemia
- Chronic Lymphocytic Leukemia (CLL) - Diagnostic and Prognostic Testing
- Culture, Fungus
- Culture, Urine, Routine
- Cystic Fibrosis Screen
- Cytomegalovirus (CMV) and Epstein Barr Virus (EBV) PCR
- Cytomegalovirus (CMV) IgG avidity
- D-Dimer, Quantitative
- Dementia, Secondary Causes
- Dengue Virus Testing
- Diagnosis of Intestinal Parasites
- Drug Testing, General Toxicology (Blood, Urine, or Serum)
- Drug Toxicology Alcohol Metabolite, with Confirmation, Oral Fluid
- Drug Toxicology Monitoring, Oral Fluid Testing
- Factor V (Leiden) Mutation Analysis
- Factor VIII Activity, Clotting
- Familial Hypercholesterolemia (FH) Panel
- Familial Hypercholesterolemia (FH) Single Site
- Familial Mediterranean Fever Mutation Analysis
- First Trimester Screen, hCG
- First Trimester Screen, Hyperglycosylated hCG (h-hCG)
- FISH, Angelman
- FISH, MET Amplification
- FISH, Myeloma, 17p-, rea 14q32 with Reflexes
- FISH, Prader-Willi
- FISH, Prenatal Screen
- No FAQs found
- Helicobacter pylori (H pylori) Antibody Discontinuation
- Heparin, Anti-Xa
- Hepatitis B Surface Antibody, Quantitative
- Hepatitis B Surface Antigen, Quantitative, Monitoring
- Hepatitis C Antibody with Reflex to HCV RNA, PCR with Reflex to Genotype
- Hepatitis C Viral RNA Genotype 1 NS5A Drug-resistance
- Hepatitis C Viral RNA Genotype 3 NS5A Drug Resistance
- Hepatitis C Viral RNA NS3 Drug Resistance
- Hepatitis C Viral RNA, Genotype, LiPA
- Hepatitis C Virus Antibody and RNA Testing
- Hereditary Cancer Panels: MYvantageTM Hereditary Comprehensive Cancer Panel and GIvantageTM Hereditary Colorectal Cancer Panel
- Hereditary Hemochromatosis DNA Mutation Analysis
- Herpes Simplex Virus (HSV) Type-Specific IgG Antibodies
- Herpes Simplex Virus Type 2 (HSV-2) IgG Inhibition, ELISA
- HIV Pre-exposure Prophylaxis (PrEP) Testing
- HIV-1 Coreceptor Tropism, Proviral DNA
- HIV-1 Coreceptor Tropism, Ultradeep Sequencing
- HIV-1 Integrase Genotype
- HIV-1 Resistance, Proviral DNA (RTI, PI, Integrase Inhibitors)
- HIV-1/2 Antigen and Antibodies, Fourth Generation, with Reflexes
- HPV mRNA E6/E7
- Infliximab and Adalimumab Drug and Anti-drug Antibody Testing
- Influenza A and B Antigen, Immunoassay
- Influenza Type A and B Antibodies
- Insulin, Intact, LC/MS/MS
- Integrated Screen, Part 1
- Integrated Screen, Part 2
- Intrinsic Factor Blocking Antibody
- No FAQs found
- No FAQs found
- LDL Cholesterol Calculations
- LeukoVantage® Myeloid Neoplasm Mutation Panels
- Lupus Anticoagulant (LA) Evaluation with Reflex
- Maternal Serum AFP
- Melanoma, BRAF V600E and V600K Mutation Analysis, THxID®
- Metanephrines, Fractionated, Free, LC/MS/MS, Plasma
- Methylenetetrahydrofolate Reductase (MTHFR), DNA Analysis
- Microalbumin (Urinary Albumin Excretion)
- Myeloproliferative Neoplasm Diagnosis: Molecular Evaluation
- No FAQs found
- Pain Management and CYP2D6/CYP2C19
- Pain Management Antidepressants, With Confirmation, Urine
- Pain Management Antipsychotics, With Confirmation, Serum and Urine
- Pain Management, Naltrexone, Quantitative, Urine
- Partial Thromboplastin Time, Activated (aPTT)
- Penta Screen
- Pharmacogenomics Panel
- PIK3CA Mutation Analysis
- Platelet Antibody Screen (Indirect)
- PNH with FLAER (High Sensitivity)
- Prothrombin Time with INR
- PTH, Intact and Calcium
- Streptococcus pneumoniae (Pneumococcal) Antibody Tests
- Saccharomyces cerevisiae Antibodies (ASCA) (IgG, IgA)
- Sequential Integrated Screen, Part 1
- Sequential Integrated Screen, Part 2
- Serum Integrated Screen, Part 1
- Serum Integrated Screen, Part 2
- Serum Pregnancy Tests
- Sickle Cell Screen
- Stepwise, Part 1
- Stepwise, Part 2
- SureSwab® Trichomonas vaginalis RNA, Qualitative TMA
- SureSwab®, Candidiasis, PCR
- TP53 Sequencing and Deletion/Duplication
- T4, Free
- Tamoxifen and Metabolites, LC-MS/MS
- Testosterone Testing
- Total Testosterone, LC/MS/MS
- Triple Screen
- No FAQs found
- No FAQs found
- No FAQs found
Familial Hypercholesterolemia (FH) PanelTest code(s) 94877
Question 1. What is this test used for?
This test is used to detect point mutations, deletions, and duplications in the LDLR, APOB, and PCSK9 genes. Variants in these (and other) genes have been associated with Familial Hypercholesterolemia (FH).
Question 2. Who is this test appropriate for?
This test may be appropriate to confirm a diagnosis of FH for:
Individuals with a personal history of hypercholesterolemia or an uncertain clinical diagnosis of FH
- Clinical diagnostic criteria are available through the Dutch Lipid Clinic Network,1 the Simon Broome Register Group,2 and the US MEDPED Program3
- Individuals with a personal or family history of developing cardiovascular disease or coronary artery disease at a young age
- Individuals with a personal or family history of visible lipid deposits in the tendons (tendon xanthoma) or eyes (corneal arcus)
When multiple family members are affected, the person with the earliest symptom onset should be tested first if possible.
Informed consent following genetic counseling is strongly recommended.
Question 3. What test should I order if the patient has an affected family member(s) with a known variant(s)?
If the patient has a known familial variant(s), the Familial Hypercholesterolemia (FH) Single Site test (test code 94878) may be ordered. If you have questions, please call Quest Genomics Client Services at 1.866.GENE.INFO to speak with a genetic counselor.
Question 4. Whom can I ask for help regarding a specific case?
You can ask one of our genetic counselors. Please call Quest Genomics Client Services at 1.866.GENE.INFO to speak with a genetic counselor.
Question 5. When is the right time to test my patient?
Testing is indicated when a diagnosis of FH is suspected or when a clinical diagnosis of FH needs to be confirmed. You may consider testing patients if they have a personal or family history that meets clinical diagnostics criteria or leads to an uncertain diagnosis.
Question 6. My patient has a positive result. What does this mean?
A patient is considered to have a positive result when at least one pathogenic or likely pathogenic variant has been detected. The presence of a single pathogenic variant is causative of FH. Individuals with FH are at risk of developing high levels of LDL cholesterol (LDL-C), which may increase the risk for premature coronary artery disease and myocardial infarction. Patientswith FH may also develop visible lipid deposits in the tendons (tendon xanthoma) or eyes (corneal arcus). Individuals with FH may have either heterozygous FH (HeFH) or homozygous FH (HoFH). Patients with HoFH tend to have more severe symptoms and/or earlier onset than those with HeFH.
The FH Foundation provides information and resources about FH (https://www.thefhfoundation.org). The National Lipid Association (https://www.lipid.org) and the European Atherosclerosis Society (https://www.eas-society.org) also provide management guidelines. Consider referring the patient to a center experienced in treating patients with FH. Counselors at these centers can discuss treatment options with the patient. Genetic counseling for family members is advised.
Question 7. My patient has a negative result. What does this mean?
A negative result means that a pathogenic or likely pathogenic variant was not found in the LDLR, APOB, or PCSK9 genes. Implications of this result depend on the patient’s personal medical history and family history:
- Patient with elevated LDL-C levels: Your patient should continue to be managed based on current guidelines. A negative result does not eliminate the possibility of FH, as other known or unknown genes may cause this phenotype. In some situations, additional genetic testing may be appropriate. Please call Quest Genomics Client Services at 1.866.GENE.INFO to discuss possible additional testing with a genetic counselor.
- Patient without elevated LDL-C levels, with family history suspicious for FH: Testing an affected family member is recommended for proper risk assessment. In some situations, additional genetic testing may be appropriate. Please call Quest Genomics Client Services at 1.866.GENE.INFO to discuss possible additional testing with a genetic counselor.
Question 8. My patient has a variant of unknown clinical significance (VUS). What does this mean?
A VUS result means that the variant has not been previously described in the literature or the clinical significance is unclear based upon currently available evidence. Medical management decisions should be based on personal and family history. If you have questions, please call Quest Genomics Client Services at 1.866.GENE.INFO to speak with a genetic counselor.
- World Health Organization (WHO). Familial hypercholesterolaemia (FH): report of a second WHO Consultation, Geneva, 4 September 1998. Geneva, Switzerland: World Health Organization; 1991.
- Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolemia. BMJ. 1991;303:893-896.
- Williams RR, Hunt SC, Schumacher C, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardio. 1993;72(2):171-176.