Marfan Syndrome (FBN1)
Order Name
FBN1 Marfan Synd
Test Number: 5194960
Revision Date 03/21/2023
Test Number: 5194960
Revision Date 03/21/2023
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
Marfan Syndrome (FBN1)
|
Polymerase Chain Reaction |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 8.5 mL (3 mL) | Whole Blood | ACD Solution A or B (Yellow Top) | Room Temperature |
| Alternate 1 | 8.5 mL (3 mL) | Whole Blood | EDTA (Lavender Top) | Room Temperature |
| Alternate 2 | 1 | Saliva | Oragene Dx saliva kit | Room Temperature |
| Alternate 3 | 1 | Buccal swab | PurFlock buccal swab kit | Room Temperature |
| Instructions | Specimen Type: Whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit Specimen Volume: 8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit Mininum Volume: 3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit Collection: Standard phlebotomy. Follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 min prior to collection. Specimen Storage: Maintain specimen at room temperature or refrigerate at 4C Do not freeze. Special Instructions: In cases in which there is a known variant documented in the family, the physician may prefer to order Targeted Variant Analysis, test code 5194970. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. |
|||
| GENERAL INFORMATION | |
|---|---|
| Expected TAT | 14 - 21 days In some cases, additional time may be required for confirmatory or reflex tests. |
| Clinical Use | This test is used for diagnostic testing for Marfan syndrome and presymptomatic testing for family members. Next-generation sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs). |
| Performing Labcorp Test Code | 482336 |
| Notes | Labcorp Test Code: 482336 |
| Lab Section | Reference Lab |