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3002685
Alport Syndrome Panel, Sequencing and Deletion/Duplication
ALPORT NGS
Ordering Recommendation
Use to confirm carrier status or a diagnosis of Alport syndrome or an MYH9-related disease.
New York DOH Approval Status
Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.
Specimen Required
Patient Preparation
Collect
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (K2EDTA)
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-15 days
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Genes tested: COL4A3; COL4A4; COL4A5; MYH9
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
