Ordering Recommendation

Preferred test to diagnose Loeys-Dietz syndrome (LDS) in an individual who meets clinical criteria. If the patient does not fit strict clinical criteria for LDS, consider ordering the Aortopathy Panel, Sequencing and Deletion/Duplication (2006540) to increase diagnostic sensitivity.

Mnemonic

LDS NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: TGFBR1, TGFBR2

Hotline History

N/A

CPT Codes

81405

Components

Component Test Code* Component Chart Name LOINC
3003948 Spcm LDS
3003949 LDS Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Syndrome Core Panel, Sequencing