Ordering Recommendation

Use to confirm carrier status or a diagnosis of Alport syndrome or an MYH9-related disease.

Mnemonic

ALPORT NGS

Methodology

Massively Parallel Sequencing/ Multiplex Ligation-dependent Probe Amplification

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: 2 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: COL4A3**, COL4A4**, COL4A5, MYH9**
**Deletion/duplication detection is not performed for this gene.

Hotline History

N/A

CPT Codes

81407; 81408; 81479

Components

Component Test Code* Component Chart Name LOINC
3002686 Alport Syndrome Specimen
3002687 Alport Syndrome 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

  • Familial nephritis
  • hereditary nephritis
  • MYH9-associated disorder
  • MYH9-related disease
  • thin basement membrane disease
  • thin basement membrane nephropathy
Alport Syndrome Panel, Sequencing and Deletion/Duplication