Familial Aortopathy Panel
Order Name
Fam Aortopathy
Test Number: 5194952
Revision Date 06/19/2023
Test Number: 5194952
Revision Date 06/19/2023
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
Familial Aortopathy Panel
|
| 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. |
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| GENERAL INFORMATION | |
|---|---|
| Expected TAT | 14 - 21 days In some cases, additional time may be required for confirmatory or reflex tests. |
| Clinical Use | This test includes the following genes: ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, MAT2A, MED12 (c.3020A>G (p.Asn1007Ser) variant only), MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1 and TGFBR2. |
| Performing Labcorp Test Code | 482189 |
| Notes | Labcorp Test Code: 482189 |
| CPT Code(s) | 81410 |
| Lab Section | Reference Lab |