Test Details
Methodology
Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Result Turnaround Time
14 - 21 days (In some cases, additional time may be required for confirmatory or reflex tests.)
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Test Includes
This test includes the following genes: APOB (556 bp of exon 26), LDLR, LDLRAP1 and PCSK9.
Use
This test is used for diagnostic testing for familial hypercholesterolemia and presymptomatic testing for family members.
Special Instructions
In cases in which there is a known variant documented in the family, the physician may prefer to order GeneSeq® Cardio Targeted Variant Analysis [485208].
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Limitations
Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.
Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Specimen Requirements
Specimen
Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit
Volume
8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Minimum Volume
3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit
Collection Instructions
Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Stability Requirements
Whole blood: 14 days at room temperature or 30 days at 4°C
Buccal: 60 days at room temperature
Saliva: 60 days at room temperature
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
References
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 482261 | Familial Hypercholesterolemia | 482244 | Genes | 48018-6 | ||
| 482261 | Familial Hypercholesterolemia | 482245 | Ethnicity | 42784-9 | ||
| 482261 | Familial Hypercholesterolemia | 482246 | Specimen Type | 31208-2 | ||
| 482261 | Familial Hypercholesterolemia | 482247 | Genetic Counselor | 89993-0 | ||
| 482261 | Familial Hypercholesterolemia | 482249 | Result: | 48003-8 | ||
| 482261 | Familial Hypercholesterolemia | 482250 | Interpretation | 53039-4 | ||
| 482261 | Familial Hypercholesterolemia | 482251 | General Comments | 8262-8 | ||
| 482261 | Familial Hypercholesterolemia | 482252 | Recommendations | 62385-0 | ||
| 482261 | Familial Hypercholesterolemia | 482253 | Additional ClinicalInformation | 55752-0 | ||
| 482261 | Familial Hypercholesterolemia | 482254 | Comments | 8251-1 | ||
| 482261 | Familial Hypercholesterolemia | 482255 | Methods/Limitations | 49549-9 | ||
| 482261 | Familial Hypercholesterolemia | 482256 | References | 75608-0 | ||
| 482261 | Familial Hypercholesterolemia | 482257 | Genes Analyzed | 48018-6 | ||
| 482261 | Familial Hypercholesterolemia | 482258 | Director Review/Release | 72486-4 | ||
| 482261 | Familial Hypercholesterolemia | 482259 | 51969-4 | |||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482244 | |||||
| Result Code Name | Genes | |||||
| UofM | ||||||
| Result LOINC | 48018-6 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482245 | |||||
| Result Code Name | Ethnicity | |||||
| UofM | ||||||
| Result LOINC | 42784-9 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482246 | |||||
| Result Code Name | Specimen Type | |||||
| UofM | ||||||
| Result LOINC | 31208-2 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482247 | |||||
| Result Code Name | Genetic Counselor | |||||
| UofM | ||||||
| Result LOINC | 89993-0 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482249 | |||||
| Result Code Name | Result: | |||||
| UofM | ||||||
| Result LOINC | 48003-8 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482250 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 53039-4 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482251 | |||||
| Result Code Name | General Comments | |||||
| UofM | ||||||
| Result LOINC | 8262-8 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482252 | |||||
| Result Code Name | Recommendations | |||||
| UofM | ||||||
| Result LOINC | 62385-0 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482253 | |||||
| Result Code Name | Additional ClinicalInformation | |||||
| UofM | ||||||
| Result LOINC | 55752-0 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482254 | |||||
| Result Code Name | Comments | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482255 | |||||
| Result Code Name | Methods/Limitations | |||||
| UofM | ||||||
| Result LOINC | 49549-9 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482256 | |||||
| Result Code Name | References | |||||
| UofM | ||||||
| Result LOINC | 75608-0 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482257 | |||||
| Result Code Name | Genes Analyzed | |||||
| UofM | ||||||
| Result LOINC | 48018-6 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482258 | |||||
| Result Code Name | Director Review/Release | |||||
| UofM | ||||||
| Result LOINC | 72486-4 | |||||
| Order Code | 482261 | |||||
| Order Code Name | Familial Hypercholesterolemia | |||||
| Order Loinc | ||||||
| Result Code | 482259 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 51969-4 |