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HelpTest ID: LIPOG Lipodystrophy Gene Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are 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 the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.
Specimen Required
Patient Preparation: A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
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 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Cord blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send cord blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
3. While a properly collected cord blood sample may not be at risk for maternal cell contamination, unanticipated complications may occur during collection. Therefore, maternal cell contamination studies are recommended to ensure the test results reflect that of the patient tested and are available at an additional charge. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 2 Swabs
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional information: Saliva specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
Specimen Type: Extracted DNA
Container/Tube:
Preferred: Screw Cap Micro Tube, 2 mL with skirted conical base
Acceptable: Matrix tube, 1 mL
Collection Instructions:
1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated
Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.
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. Hereditary Dyslipidemia Patient Information
3. Lipodystrophy Gene Panel (LIPOG) Prior Authorization Ordering Instructions
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 12 genes associated with hereditary lipodystrophy: AGPAT2, BSCL2, CAV1, CAVIN1, FBN1, KCNJ6, LIPE, LMNA, PIK3R1, PLIN1, PPARG, and ZMPSTE24. See Targeted Genes and Methodology Details for Lipodystrophy Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary lipodystrophy.
Prior Authorization is available for this assay.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Lipodystrophy Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Clinical Information
Lipodystrophies are rare conditions characterized primarily by the inability to properly store adipose tissue in the absence of nutritional deficit or catabolic state.(1) Lipodystrophies can be genetic (hereditary) or acquired (caused by environmental factors such as illness). The two most common forms of hereditary lipodystrophies are congenital generalized lipodystrophy (CGL) and familial partial lipodystrophy (FPLD), which are named according to the regions of the body they affect.(1)
Congenital generalized lipodystrophy (also known as Berardinelli-Seip congenital lipodystrophy) is an autosomal recessive condition characterized by generalized absence fat throughout the entire body, generalized muscular appearance, and metabolic complications such as diabetes mellitus and dyslipidemia.(1,2) The prevalence of autosomal recessive CGL is not well-established, with estimates ranging from 1:10,000,000 to 1:25,000 depending on the population being considered.(2) Severe CGL is also a feature of Keppen-Lubinsky syndrome (KPLBS), an extremely rare autosomal dominant condition caused by biallelic, disease-causing variants in the KCNJ6 gene. KPLBS is a syndromic condition characterized by severe generalized lipodystrophy, microcephaly, progeroid appearance, and intellectual disability.(3)
Familial partial lipodystrophy can be inherited in an autosomal dominant or autosomal recessive manner and is characterized by localized absence of fat in the limbs with possible metabolic complications.(1,4) FPLD can be isolated or can be a feature of a syndromic condition such as autosomal dominant SHORT syndrome (short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay) and autosomal recessive Mandibuloacral dysplasia with type B lipodystrophy.(4) The prevalence of FPLD is not known but thought to be rare.(4)
Disease-causing variants in the LMNA gene can lead to autosomal recessive and autosomal dominant forms of lipodystrophies, but variants in this gene are also associated with several autosomal dominant cardiac, connective tissue, and muscular dystrophy phenotypes.(4) Often, lipodystrophy is a single feature of a more syndromic condition when caused by disease-causing LMNA variants.(4)
The FBN1 gene is primarily associated with autosomal dominant Marfan syndrome without features of lipodystrophy. However, literature suggests that specific disease-causing variants in the FBN1 gene may lead to an overlapping phenotype characterized by partial features of Marfan syndrome, progeroid appearance, and clinical features of lipodystrophy.(5)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(6) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Brown RJ, Araujo-Vilar D, Cheung PT, et al. The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. J Clin Endocrinol Metab. 2016;101(12):4500-4511. doi:10.1210/jc.2016-2466
2. Van Maldergem L. Berardinelli-Seip congenital lipodystrophy. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated December 8, 2016. Accessed July 26, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1212/
3. Masotti A, Uva P, Davis-Keppen L, et al. Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. Am J Hum Genet. 2015;96(2):295-300. doi:10.1016/j.ajhg.2014.12.011
4. Bagias C, Xiarchou A, Bargiota A, Tigas S. Familial partial lipodystrophy (FPLD): recent insights. Diabetes Metab Syndr Obes. 2020;13:1531-1544. doi:10.2147/DMSO.S206053
5. Innes A, Dyment D. SHORT Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated June 4, 2020. Accessed January 22, 2025. Available at https://www.ncbi.nlm.nih.gov/books/NBK201365/
6. Passarge E, Robinson PN, Graul-Neumann LM. Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur J Hum Genet. 2016;24(9):1244-1247. doi:10.1038/ejhg.2016.6
7. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30
Day(s) Performed
Varies
Report Available
21 to 35 daysTest 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
81406 x2
81408
81479
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| LIPOG | Lipodystrophy Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617338 | Test Description | 62364-5 |
| 617339 | Specimen | 31208-2 |
| 617340 | Source | 31208-2 |
| 617341 | Result Summary | 50397-9 |
| 617342 | Result | 82939-0 |
| 617343 | Interpretation | 69047-9 |
| 617344 | Additional Results | 82939-0 |
| 617345 | Resources | 99622-3 |
| 617346 | Additional Information | 48767-8 |
| 617347 | Method | 85069-3 |
| 617348 | Genes Analyzed | 48018-6 |
| 617349 | Disclaimer | 62364-5 |
| 617350 | Released By | 18771-6 |
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