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FBN1 (Marfan Syndrome) Single Gene Analysis

Test Number 482336
Test number copied
CPT

81408

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.

Related Documents

For more information, please review the literature below.

Consent for genetic testing

GenSeq®: Cardio brochure

Familial Aortopathies Clinical Questionnaire

Use

This test is used for diagnostic testing for Marfan syndrome 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

Rehder C, Bean LJH, Bick D, et al. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1399-1415.33927380
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 May;17(5):405-424.25741868

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
482336 FBN1: Marfan Syndrome 77114-7 482319 Test Detail 19102-3
482336 FBN1: Marfan Syndrome 77114-7 482320 Ethnicity 42784-9
482336 FBN1: Marfan Syndrome 77114-7 482321 Specimen Type 31208-2
482336 FBN1: Marfan Syndrome 77114-7 482322 Genetic Counselor 89993-0
482336 FBN1: Marfan Syndrome 77114-7 482323 Indication 42349-1
482336 FBN1: Marfan Syndrome 77114-7 482324 Result: 77114-7
482336 FBN1: Marfan Syndrome 77114-7 482325 Interpretation 53039-4
482336 FBN1: Marfan Syndrome 77114-7 482326 General Comments 8262-8
482336 FBN1: Marfan Syndrome 77114-7 482327 Recommendations 62385-0
482336 FBN1: Marfan Syndrome 77114-7 482328 Additional ClinicalInformation 55752-0
482336 FBN1: Marfan Syndrome 77114-7 482329 Comments 8251-1
482336 FBN1: Marfan Syndrome 77114-7 482330 Methods/Limitations 49549-9
482336 FBN1: Marfan Syndrome 77114-7 482331 References 75608-0
482336 FBN1: Marfan Syndrome 77114-7 482332 Director Review/Release 72486-4
482336 FBN1: Marfan Syndrome 77114-7 482334 PDF 51969-4
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482319
Result Code NameTest Detail
UofM
Result LOINC19102-3
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482320
Result Code NameEthnicity
UofM
Result LOINC42784-9
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482321
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482322
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482323
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482324
Result Code NameResult:
UofM
Result LOINC77114-7
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482325
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482326
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482327
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482328
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482329
Result Code NameComments
UofM
Result LOINC8251-1
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482330
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482331
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482332
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code482336
Order Code NameFBN1: Marfan Syndrome
Order Loinc77114-7
Result Code482334
Result Code NamePDF
UofM
Result LOINC51969-4