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HelpTest Code LRCCZ Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies
Ordering Guidance
For a comprehensive hereditary cancer panel that includes the FH gene, consider ordering 1 of the following tests:
-ENDCP / Hereditary Endocrine Cancer Panel, Varies
-HPGLP / Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
-RENCP / Hereditary Renal Cancer Panel, Varies
Testing for the FH gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for this gene. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
If the reason for testing indicates familial hypercholesterolemia, order FHRGP / Familial Hypercholesterolemia and Related Disorders Multi-Gene Panel, Next-Generation Sequencing, Varies. If this test is ordered for familial hypercholesterolemia, LRCCZ will be canceled, and client will be notified and given the opportunity to order FHRGP as the appropriate test.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information Sheet (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
Useful For
Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD)
Establishing a diagnosis of HLRCC or FHD allowing for targeted surveillance based on associated risks
Identifying genetic variants associated with increased risk for HLRCC syndrome allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the FH gene associated with hereditary leiomyomatosis and renal cell cancer syndrome. See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for autosomal dominant hereditary leiomyomatosis and renal cell cancer syndrome and autosomal recessive fumarate hydratase deficiency.
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
FH Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Germline variants in the FH gene are associated with autosomal dominant hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome and autosomal recessive fumarate hydratase deficiency (FHD).(1,2)
HLRCC is characterized by cutaneous and uterine leiomyomas and an increased risk for aggressive renal cell carcinoma. Other reported manifestations include pheochromocytoma and paraganglioma.(2)
FHD, also called fumaric aciduria, is a recessive inborn error of metabolism causing severe neonatal and infantile encephalopathy. Infants often present with poor feeding, hypotonia, and lethargy. It can be accompanied by dysmorphic facies, microcephaly, and brain malformations including bilateral polymicrogyria and absence of the corpus callosum.(1)
There are some reports of children born with FHD whose parents were suspected to have HLRCC, suggesting that individuals with HLRCC may be carriers for FHD.(1-3) The extent of overlap between FH variants causing HLRCC and FHD is not well established for certain alterations.(1-3)
Recommendations regarding cancer surveillance of children and adults with HLRCC were created at the International Second Symposium on Hereditary Leiomyomatosis and Renal Cell Cancer in 2013.(2,4)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Day(s) Performed
Varies
Report Available
21 days to 28 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81405
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| LRCCZ | FH Full Gene Analysis | 101382-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614743 | Test Description | 62364-5 |
| 614744 | Specimen | 31208-2 |
| 614745 | Source | 31208-2 |
| 614746 | Result Summary | 50397-9 |
| 614747 | Result | 82939-0 |
| 614748 | Interpretation | 69047-9 |
| 614749 | Resources | 99622-3 |
| 614750 | Additional Information | 48767-8 |
| 614751 | Method | 85069-3 |
| 614752 | Genes Analyzed | 48018-6 |
| 614753 | Disclaimer | 62364-5 |
| 614754 | Released By | 18771-6 |